disease_id,text,has_text
13924_12592_14672_13460_12591_12536_30861_8146_8148_32846_13459_44329_14544_9805_49223_9804_14086_8147_13515_14029_12581_19019,osteogenesis imperfecta,True
11160_13119_13978_12060_12327_12670_13210_11067_12903_12293_12376_12375_11767_10965_12460_10967_11602_12002_11762_13386_14363_10933_12452_13365_13250_13826_12445_12326_11360_11392_13985_14739_11351_13489_12421_9076_13738_11279_14675_11286_13249_12485_10986_12420_14428_12170_12091_12442_11364_13984_12418_14237_13010_12355_912_14469_12273_13269_12602_11774_10807_12977_12003_12370_11192_10987_11991_12333_10860_13929_13471_11912_13537_13963_11799_13215_11553_14182_19588_14849,autosomal recessive nonsyndromic deafness,True
8099_12497_12498,congenital stationary night blindness autosomal dominant,True
14854_14293_14470_12380_11832_14603_14853_11761_11032_14594_12975_10973_12090_14740_12902_10915_11058_14283_11519_12083_7424_11673_11389_13632_11103_11226_11102_12974_12086_11159_11074_11031_10963_13823_11660_11893_13305_11708_11994_12030_11625_11350_13114_12023_11568_11920_12976_14738_14291_10817_11480_13593_11657_19587,autosomal dominant nonsyndromic deafness,True
33202_32776_30905_33670_33200_32740_32732_33201_54860_32761_32639_29142_32762_33198_32749_33199,"deafness, autosomal recessive",True
11396_7422,keratoderma hereditarium mutilans,True
14828_14829_9454_13553_133,immunodeficiency-centromeric instability-facial anomalies syndrome,True
8019,mullerian aplasia and hyperandrogenism,True
11043,"myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay",True
9260_9261_9262_18149,GM1 gangliosidosis,True
8878,"bone dysplasia, lethal Holmgren type",True
8905,predisposition to invasive fungal disease due to CARD9 deficiency,True
14083_13288_12987_13287_13289_20729_14840_13290_11096_16462_15977,agammaglobulinemia,True
7162,asymmetric short stature syndrome,True
9699,action myoclonus-renal failure syndrome,True
14986_14987_10351_10953_13565_9213_12565_13248_12187_13499_14108_44325_54748_11325_9214_14985_9215_11584_12186_13566_14638,Fanconi anemia complementation group,True
7157_14028_16675_7364_32750_20820_30847_32751_13698,"arthrogryposis, distal,",True
14897,"portal hypertension, noncirrhotic",True
12035,craniosynostosis-intracranial calcifications syndrome,True
10023,combined immunodeficiency due to ZAP70 deficiency,True
32884,"ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies",True
32911_33258_32917_33668_33665_30058_33260_32802_33259_29137_30998,"deafness, autosomal dominant",True
14076_13519_9136_14600_13520_27353,"dyskeratosis congenita, autosomal recessive",True
14624,Brown syndrome,True
54593_54716_12106_13923_11437_14623_11488_14484_9617_14473_12989_54806_14173_12029_54804_32583_14908_32694_13849_14660_7988_14730_54805_54761_30929_30928_16660,primary microcephaly,True
14798_7217_7218_14032_7219_20701_7222_7216_7221_7223_11757_7220_12658_13244_19679_19677_7215_19676_21004_19678_22599,brachydactyly,True
10090,Summitt syndrome,True
30027_14756_13888_8590_11201_12671,"tremor, hereditary essential",True
7099,familial visceral amyloidosis,True
24541_13818,trichohepatoenteric syndrome,True
13285_9413_13286_13283_13284_11864_14697_14260_13862_54691,"immunodeficiency, common variable",True
8196,parastremmatic dwarfism,True
9614_9613_17214_17685,vitamin B12-responsive methylmalonic acidemia,True
11870,annular epidermolytic ichthyosis,True
12015_9762_8654_8106_13903_5712,congenital nystagmus,True
7774,hyperreflexia (disease),True
11063,"hidrotic ectodermal dysplasia, Christianson-Fourie type",True
7315,cherubism,False
11107,congenital hypotrichosis with juvenile macular dystrophy,True
12345,acral peeling skin syndrome,True
32659,"mucocutaneous ulceration, chronic",True
7447,autosomal dominant vibratory urticaria,True
32914_12748_14030_14215_14193_13854_14123_12978_12088_32664_13174_9484_32757_32874_32637_14192_13979_12906_14465_13434_14909_32872_13525_14202_14750_14910_54843_13940_14211_14216_32924_12918_14378_14203_12979_12085_12571_14657_13435_11718_33204_16575_12087_12844,primary ciliary dyskinesia,True
8470_30074,spondyloepiphyseal dysplasia with punctate corneal dystrophy,True
11015_12527_14799_14673_12489_12260_12665_11104_14565_14075_13484_7279_7287_14111_13744_10544_32735_12395_13411_10948_7278_12688_14110_12336_7288_7282_7280_7283_7286_11547_12437_7290_11413_12701_7281_7285_13859_7284_11162_5129_45050_11587_11591_11808_13067_12175,cataract,False
13843,intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency,True
12203,familial hyperthyroidism due to mutations in TSH receptor,True
11732,familial digital arthropathy-brachydactyly,True
8237,phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome,True
10214_10215_10216_10210_10211_12531_10212_10213_19600,xeroderma pigmentosum,True
7207,Böök syndrome,True
14848,TELO2-related intellectual disability-neurodevelopmental disorder,True
7312,Charcot-Marie-Tooth disease with ptosis and parkinsonism,True
14803,spasticity-ataxia-gait anomalies syndrome,True
9577,megalocornea-intellectual disability syndrome,True
9712,congenital multicore myopathy with external ophthalmoplegia,True
14555_54852_24548_14923_11937_19347,peeling skin syndrome,True
12238_24528_12415_20845_14898_14656_12241_13117_9783_90,progressive external ophthalmoplegia with mitochondrial DNA deletions,True
11670,Ehlers-Danlos syndrome due to tenascin-X deficiency,True
11177_13976_13975_13313_32804_13973_13974_44305_10955_23040_23041_23042,ectodermal dysplasia,True
33622_14365_14366_30844_32859_14961_32744_20851_32739_7161_54723_20852_54726_11720_54730_32863_7060_33673_14970_32845_54725_30938_14847_54724_54615_30846_14172_54732_54729_32686_30868_33671_9776_13505_29147_54728_54731_54727_10052_20855_32896_29148_14037_32748_13504_32898_54733_13070_13901_30926_30989,spermatogenic failure,True
7794_9239_9223_13912_13961_7844_13946_14105_13910_14102_12880_14461_9482_30010_14107_13914_10635_14106_13911_12528_13926_13913_12988_14103_13915,hypogonadotropic hypogonadism with or without anosmia,True
14078_13623_13597_32765_13622_14518_14386_11588_12354_12031_54577_8553_14830_8552_30996,platelet-type bleeding disorder,True
7411_14706_13751,"cutis laxa, autosomal dominant",True
14502,mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency,True
10070,"brachyolmia type 1, Hobaek type",True
8596_8597_7874_19176_17951,trichorhinophalangeal syndrome,True
18959,potassium-aggravated myotonia,True
10957,"agonadism, 46,XY, with intellectual disability, short stature, retarded bone age, and multiple extragenital malformations",True
33541_14280_13500_14278_10296_33542_32723_14597_14727_8856_54696_32599_20849_32763_30858_30013_10504_14453_12426_10386_32803_14491_13427_14222_14981_13953_21094_30898_30973_30981,immunodeficiency,True
7793,hypochondroplasia,True
11703,spongiform encephalopathy with neuropsychiatric features,True
8840,ataxia telangiectasia,True
11108,Stüve-Wiedemann syndrome,True
18855_21036,keratosis pilaris,True
10803,Eiken syndrome,True
14619_14615_11125,trichothiodystrophy photosensitive,True
10102,taurodontia-absent teeth-sparse hair syndrome,True
11275_8703_12274,acromesomelic dysplasia,True
10678,"muscular dystrophy, progressive Pectorodorsal",True
7183,"azotemia, familial",True
9806_12217_17195,Bruck syndrome,True
12655_13665_60671_12134,"myoclonic epilepsy, juvenile, susceptibility to",True
10741,"tooth agenesis, selective, X-linked, 1",True
10547,X-linked progressive cerebellar ataxia,True
9520,3-hydroxy-3-methylglutaric aciduria,True
12063,ulnar/fibula ray defect-brachydactyly syndrome,True
8527,tarsal coalition,True
11814_14087_15799,Smith-McCort dysplasia,True
8265_14860,polycystic liver disease,True
12945_11691_12077_8780_11196_27694_11951_10459_11223_11632_14223_12790_12753_13715_7103_13264_13891_14181_4976_5145_11952,amyotrophic lateral sclerosis,True
10615_13006_8250_32569_9876_32567,isolated growth hormone deficiency,True
13141_15372,autosomal dominant macrothrombocytopenia,True
9705,carnitine palmitoyl transferase 1A deficiency,True
7943,Nager acrofacial dysostosis,True
8045,spinal muscular atrophy-progressive myoclonic epilepsy syndrome,True
9429,"hypophosphatemia, renal, with intracerebral calcifications",True
14992_30031_13527_15148_15146,lissencephaly,True
7366_42499_11593_10021_11904_17615_7365_11990_14903_15637_11140_2016_12965,benign familial neonatal-infantile seizures,True
60527,maleylacetoacetate isomerase deficiency,True
9681_14654_355,Ullrich congenital muscular dystrophy,True
10173,Mayer-Rokitansky-Kuster-Hauser syndrome type 1,True
7976,mesomelic dwarfism of hypoplastic tibia and radius type,True
10218_13120_9301_13410_10226_10442_20712_14634_100250_30049_7938_60489_13066_14480,"46,XX sex reversal",True
11136,Quebec platelet disorder,True
8149,"osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures",True
9155,EEM syndrome,True
14542_18940_12518_14587_14052_14983_14582_11600_14468_14586_14585_14588_14543_14590_14583_14581_14745_14939_9690_11088_44299_13620_9689_14584_11281_12157_14578_13883,congenital myasthenic syndrome,True
44721,severe combined immunodeficiency due to LAT deficiency,True
9740,neurofaciodigitorenal syndrome,True
12662_29141_10169_13935_11186_13788_10984_10168_11748_32841_10170_14001_10171_11195_11558_19501_16484_16485_12968,Usher syndrome,True
14338,IL21-related infantile inflammatory bowel disease,True
7048,acrokeratosis verruciformis,True
14820,mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type),True
7841,coxopodopatellar syndrome,True
13809,"cerebellar ataxia, neuropathy, and vestibular areflexia syndrome",True
32775,neurodevelopmental disorder with seizures and speech and walking impairment,True
7039_7245_18975_21061_8075,neurofibromatosis,True
9816_11877_12679_14040_9817_12676_20848_8156_9818_12859_9815_19026_20645,osteopetrosis,True
13081_14054_16537,lymphoproliferative syndrome,True
13017_11452_10206_11549_13649_7805_14384_13650_13514_14027_14390_7806_32649_11932_18914_3037,hypotrichosis,True
11335_7738,spondyloepimetaphyseal dysplasia with joint dislocations,True
10570,craniofrontonasal syndrome,True
14227,hypopigmentation-punctate palmoplantar keratoderma syndrome,True
13087_8887_13112,bronchiectasis with or without elevated sweat chloride,True
13890,congenital myopathy with internal nuclei and atypical cores,True
8521,tarsal-carpal coalition syndrome,True
10619_10358_20720,hereditary hypophosphatemic rickets,True
30105_18116,galactosemia,True
10121,thrombocytopenia-absent radius syndrome,True
10956,"enamel hypoplasia, cataracts, and aqueductal stenosis",True
11881_13034,keratosis palmoplantaris striata,True
9151,cleft lip/palate-ectodermal dysplasia syndrome,True
8603_13774_156,trigonocephaly,True
9294_13291_10598_13091_10362_9868_9295_9293_9290_9291_2413_2412,glycogen storage disease,True
14831,progeroid and marfanoid aspect-lipodystrophy syndrome,True
11539_12237_15736_15739_15738_8070_12538_12240_14138_14326_14513_12239_9725_15737_18958,nemaline myopathy,True
9288_9287,glycogen storage disease due to glucose-6-phosphatase deficiency,True
10435_10369_10693,"nystagmus, congenital, X-linked",True
33005_33008_33009_33007_32693_32691_32692_9627,Galloway-Mowat syndrome,True
8322,pseudoachondroplasia,True
12684_908_12434_12180_12506_11459_11831_11460_11189_7152_11188_10975,arrhythmogenic right ventricular dysplasia,True
11456_13444_9728_14374_13916_14537_11752_14997_13718_11190_14158_13917_12680_13442_13302_19005,nephronophthisis,True
10184_10183_10185_10657_13925,methylmalonic aciduria/acidemia and homocystinuria,True
13681,alpha-methylacyl-CoA racemase deficiency,True
10248_10737,X-linked spondyloepimetaphyseal dysplasia,True
10674_9659_9660_9661_11093_9662_16316_16315_18937_18938_1586_19249_19302_17171_17172,mucopolysaccharidosis,True
15017_10015_15016_7138_7662_24456_19503,anterior segment dysgenesis,True
44206_8975,otospondylomegaepiphyseal dysplasia,True
14276,combined immunodeficiency due to CD3gamma deficiency,True
8211,"pseudoleprechaunism syndrome, Patterson type",True
9008,heart defect - tongue hamartoma - polysyndactyly syndrome,True
10031,Sjogren-Larsson syndrome,True
10884,"muscular dystrophy, scapulohumeral",True
11839,Newfoundland cone-rod dystrophy,True
32584,"ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis",True
7204_14573_16085,Cole-Carpenter syndrome,True
12127_13390_14144_12193_13161_9676_14977_30014_12248_14900_11787_14474_12652_12699_29136_11028_14788_11968_29133_11170_9683_11423_9675_14129_13162_13440_9677_14142_14782_13297_12034_15152_15151_16971,limb-girdle muscular dystrophy,True
10909_13829_13834_15797,UV-sensitive syndrome,True
12214_11826_24536_13874_40502,glucocorticoid deficiency,True
11530_8620_7977_23599,mesomelic dysplasia,True
7094_10521_15008_21547_7538_8770_8772_14560_32717_14540_8771_7092_19507_15047_15048,amelogenesis imperfecta,True
10838,gonadal agenesis,True
8648,"ventricular tachycardia, familial",True
9882,"plasma clot retraction factor, deficiency of",True
14945,"myopathy, distal, with rimmed vacuoles",True
10952,hereditary hyperferritinemia with congenital cataracts,True
8174_14325_14324_8173_16471,pachyonychia congenita,True
100316_12738_14550_14548_13279_12737_13062_12736_11377_32915_13370_13367_13372_2442_32756,long QT syndrome,True
100157_100156_9853,Imerslund-Grasbeck syndrome,True
8257,"platelet responsiveness to adrenaline, depressed",True
9496,Kniest-like dysplasia with pursed lips and ectopia lentis,True
20628_20629,"microcephaly, growth restriction and increased sister chromatid exchange",True
13524,bleeding diathesis due to thromboxane synthesis deficiency,True
8794,"anhidrosis, familial generalized, with abnormal or absent sweat glands",True
9652,mucolipidosis type III gamma,True
12556,DK1-CDG,False
9926,autosomal recessive multiple pterygium syndrome,True
8473_8476_11198_10275_10068_32571_12108_32885_60702_11252_19666_13014_10076,spondyloepimetaphyseal dysplasia,True
9550_7937_12717_13480,renal hypomagnesemia,True
14454_9337_32564,Hennekam lymphangiectasia-lymphedema syndrome,True
10074,"brachyolmia type 1, toledo type",True
11604,spondylo-ocular syndrome,True
9609,methylcobalamin deficiency type cblG,True
12205,autosomal dominant striatal neurodegeneration type 1,True
14850,retinitis pigmentosa and erythrocytic microcytosis,True
11481_10903_10929_44315_14705_15467_15337_15469,craniosynostosis,True
13543,trypsinogen deficiency,True
14589_18911_10894_11668_12818_7452_13240_12348_12513_13242_7453_14674_11667,maturity-onset diabetes of the young,True
9702,myopathy due to malate-aspartate shuttle defect,True
9786_15011_12543_10698_14571_24569_8133_33549_3608_11536,optic atrophy,True
8195,paramyotonia congenita of Von Eulenburg,True
8702_10966_8701_19648,achondrogenesis,True
13712_24465_10424,"surfactant metabolism dysfunction, pulmonary",True
11025,Cayman type cerebellar ataxia,True
14841_32806_10495_21013,trichothiodystrophy nonphotosensitive,True
12474_14002_11545_10899_11297_20300,autosomal dominant nocturnal frontal lobe epilepsy,True
11760,Scheie syndrome,True
54551_54550,"avascular necrosis of femoral head, primary",True
20733_8509_14125_8511_151,symphalangism,True
14080,osteosclerotic metaphyseal dysplasia,True
14810,pancytopenia due to IKZF1 mutations,True
8582,tooth and nail syndrome,True
10604_10602_15720_15719_18660_15721_15715_15716_15717,hemophilia,False
32899_42490_13139,"neutropenia, severe congenital, autosomal dominant",True
9269_13612_54722_127,geleophysic dysplasia,True
14219,"alacrima, achalasia, and intellectual disability syndrome",True
8226_12051,"periodontitis, aggressive",True
7126_8468_24512_13192,"spondyloarthropathy, susceptibility to",True
9844,pellagra-like syndrome,True
12500_13739_19557,chilblain lupus,True
10925,velo-facial-skeletal syndrome,True
11914,hypotrichosis-lymphedema-telangiectasia syndrome,True
40500_32824_60724_60627_29140,glycosylphosphatidylinositol biosynthesis defect,True
9107,diastrophic dysplasia,True
7399,TWIST1-related craniosynostosis,True
12892,connective tissue disorder due to lysyl hydroxylase-3 deficiency,True
10870,tibial muscular dystrophy,True
10283_10460_30908_10427_10407_15601_10417_10661_10355_10306_10658_10319_10285_10286_10277_10500_10574_10398_10270_10664_10409_10461_10501_10402_10483_10729_19422_19423_19420_19421_19769_19766_19181_100284_17616,X-linked intellectual disability,True
7764,"autosomal dominant osteosclerosis, Worth type",True
33492_32702_32912_32791_14838_7617_54831_15452,Coffin-Siris syndrome,True
12465,hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency,True
13118,Nijmegen breakage syndrome-like disorder,True
12160,spondylometaphyseal dysplasia-cone-rod dystrophy syndrome,True
10977,Brody myopathy,True
11061,"chorea, remitting, with nystagmus and cataract",True
14758_24558_11555,radioulnar synostosis with amegakaryocytic thrombocytopenia,True
11124,spondyloepimetaphyseal dysplasia-abnormal dentition syndrome,True
14497,polyendocrine-polyneuropathy syndrome,True
8934,cerebellar ataxia-ectodermal dysplasia syndrome,True
14558,autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome,True
12139_11957,"macular dystrophy, retinal",True
13183_14026_14614_13450_32811_14872_9758_10241_13807_10690_16293,congenital stationary night blindness,True
7124,ankyloblepharon-ectodermal defects-cleft lip/palate syndrome,True
9955,rapadilino syndrome,True
60589,"facial palsy, congenital, with ptosis and velopharyngeal dysfunction",True
10032,Sjogren-Larsson-like ichthyosis without CNS or eye involvement,True
10404,X-linked non progressive cerebellar ataxia,True
9225,"fever, familial lifelong persistent",True
12046,"congenital corneal opacities, cornea guttata, and corectopia",True
8514_8512_8515_8516_10669_19683_21002_17460,syndactyly,False
14701_12716_32835_8472_32721_8471_12019_10073_19667_16761,spondyloepiphyseal dysplasia,True
8919,systemic primary carnitine deficiency disease,True
11020,osteoporosis-oculocutaneous hypopigmentation syndrome,True
13594_13485_14867_12246_11781_11833_33482_33479_14417_8119_14475_8120_10062_7298_11540_11694_11819_12116_7574_8457_12449_33481_13486_7296_11834_14776_14410_8458_14626_10847_11464_10848_12247_11529_11330_12450_13241_11439_32526_12103_33480_12098_16809_561,spinocerebellar ataxia,True
10649,isolated congenital megalocornea,True
12401,congenital stromal corneal dystrophy,True
11493_13590_13666_7160_19354,Stickler syndrome,True
9601,metaphyseal dysplasia without hypotrichosis,True
100092_100093,"myoclonus, familial",True
9196,ermine phenotype,True
11178,infantile convulsions and choreoathetosis,True
60764_60732,tetraamelia syndrome,True
9391,hypermetabolism due to defect in mitochondria,True
21020_11725_9044,Crigler-Najjar syndrome,True
7097,Finnish type amyloidosis,True
18816,isolated neonatal sclerosing cholangitis,True
12901,inherited prekallikrein deficiency,True
10371,Aland island eye disease,True
12433_14579_13326_12225_11755_14712_9962_11756_17842,Senior-Loken syndrome,True
34109,congenital myopathy with reduced type 2 muscle fibers,True
9810,autosomal recessive distal osteolysis syndrome,True
100083,hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1,True
100151_9066_18467,nephropathic cystinosis,True
21093_13323_13719_13573_9032,cranioectodermal dysplasia,True
12166,autosomal dominant sensory ataxia 1,True
12502,normophosphatemic familial tumoral calcinosis,True
8629,"urolithiasis, uric acid, autosomal dominant",True
9249_21759,fructose intolerance,True
14418_9709_13736,"myopathy, centronuclear",True
13234_42979_8223,hypokalemic periodic paralysis,True
8208,"patella, familial recurrent dislocation of",True
11871_11873_9757_9756_18982_1982_20384,Niemann-Pick disease,True
7948,marfanoid hypermobility syndrome,True
12554_8955_12553_14696,cerebrooculofacioskeletal syndrome,True
8421,flat face-microstomia-ear anomaly syndrome,True
7554_7551_7555_7550_14661_9181_18747_15551_19276_15550_17610_11869,epidermolysis bullosa simplex,True
9729,nephropathy - deafness - hyperparathyroidism syndrome,True
9654,"mucopolysaccharidoses, unclassified types",True
7616,"fibula, recurrent dislocation of head of",True
14239,testicular anomalies with or without congenital heart disease,True
9031,craniodiaphyseal dysplasia,True
12011_12586,"coronary artery disease, autosomal dominant",True
12994,dopa-responsive dystonia due to sepiapterin reductase deficiency,True
11907,acrocapitofemoral dysplasia,True
44207_44208_9506,specific granule deficiency,True
12204,familial pseudohyperkalemia,True
13008,combined immunodeficiency due to STIM1 deficiency,True
10162_10160_10161_4741,tyrosinemia,True
9544,"macrocephaly/megalencephaly syndrome, autosomal recessive",True
7057,acroosteolysis dominant type,True
14197,combined immunodeficiency due to MALT1 deficiency,True
13967_13950_13931_13952_18264_54549_30899_13942_13938_13948_8736_13949_13937_13945_13930_13933_11683_9959_13936_8745_8746_13932_8953_13951_14127_11101_8954_13939_13943_14070_11749_8747_13927_18910_18135_19234_20275,peroxisome biogenesis disorder,True
7409,cryptomicrotia-brachydactyly-excess fingertip arch syndrome,True
14394_13217_32668_12529_32669_44309_12937_13216_13964_12938_12925_7110_14245_12924_60662_32670_44310_12939_15253_11636,Diamond-Blackfan anemia,True
9052_13051_13754_19572_18163_27462_27451_19573,"cutis laxa, autosomal recessive,",True
12668,Tented eyebrows,True
7118,isolated anhidrosis with normal sweat glands,True
13013,"question mark ears, isolated",True
7087_13900_16241,alternating hemiplegia of childhood,True
19409,idiopathic juvenile osteoporosis,True
10928,"dwarfism, familial, with muscle spasms",True
8688,WT limb-blood syndrome,True
32801_33012_33015_33014_33010_33013_30941_17851_17681,erythrokeratodermia variabilis et progressiva,True
7459,"dilution, pigmentary",True
10229,"alopecia, congenital",True
9431,hereditary hypophosphatemic rickets with hypercalciuria,True
8469,spondyloepimetaphyseal dysplasia-hypotrichosis syndrome,True
7320,chondrocalcinosis due to apatite crystal deposition,True
7232,autosomal dominant brachyolmia,True
10294,X-linked severe congenital neutropenia,True
7630,North Carolina macular dystrophy,True
11502_9101_18105,Wolfram syndrome,True
8384,rheumatoid nodulosis,True
13274_10761_10945_8378_12796_910_11272_13611_14692_10827_13175_44314_32604_33563_13469_13468_13052_14618_14687_14871_12943_54708_13402_14400_12363_10259_19200_13610_12523_14323_13780_8377_13437_44320_13425_10723_30071_11935_13413_12625_13414_13436_13314_12477_10320_13516_13395_11630_14653_14256_13407_13263_32689_11075_14093_10818_12463_10227_8379_13328_14345_32834_11137_14929_32940_13315_13447_10828_13405_13429_11974_12024_12367_15013_36482_10806_13312_32577_12813_10374_11259,retinitis pigmentosa,True
24522_54765_13502_15301,primary cutaneous amyloidosis,True
9254,fucosidosis,True
15912,macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss,True
7745,Gilbert syndrome,True
24517_14299,schwannomatosis,True
8369_11422_9967_8368_15827_17828_1909_18440_17829,renal tubular acidosis,True
9612,methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency,True
9664,mulibrey nanism,True
10292,Uruguay Faciocardiomusculoskeletal syndrome,True
9633,"microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma",True
10026,SHORT syndrome,True
44330_13827_13828_7868_21022_17658,hyperekplexia,True
7201,"blepharophimosis, ptosis, and epicanthus inversus syndrome",True
7828,"indifference to pain, congenital, autosomal dominant",True
10541,X-linked calvarial hyperostosis,True
7804,Pallister-hall syndrome,True
7045,"acrofacial dysostosis, Catania type",True
7824,"incisors, lower central, absence of",True
8513_11984_21651_12447,synpolydactyly,True
12018_9708,"myopathy, myosin storage",True
13456,constitutional megaloblastic anemia with severe neurologic disease,True
7935,cystoid macular edema,True
16581,conotruncal heart malformations,True
14423,severe combined immunodeficiency due to DNA-PKcs deficiency,True
11219,Fried's tooth and nail syndrome,True
10603,hemophilia A with vascular abnormality,True
12409_12605_13293_12604_13377_9631_14050_13130_62,isolated microphthalmia,True
11274,Muenke syndrome,True
12033,bradyopsia,False
9387,familial lipoprotein lipase deficiency,True
14191_12762_11484_13966_13529_17990,catecholaminergic polymorphic ventricular tachycardia,True
32778_8823_100218_60486_15168,arthrogryposis multiplex congenita,True
9235,familial benign flecked retina,True
8970,chondrodysplasia Blomstrand type,True
7516,ectrodactyly and ectodermal dysplasia without cleft lip/palate,True
13992,obesity due to leptin receptor gene deficiency,True
14501,"macular degeneration, early-onset",True
8098,"mesomelic dwarfism, Nievergelt type",True
60715_100252_60714,"tumoral calcinosis, hyperphosphatemic, familial",True
33565_33564_20837_32696_32810_21574_21573_30925_21575_14769,oocyte maturation defect,True
11026_11218_14011_33091_11680_14009_9441_15018_12847_11485_33092_9439_14010_13495_9443_17265,autosomal recessive congenital ichthyosis,True
18931_9650_9653_19248,mucolipidosis,True
24538_7247_14628_14004_14204_11692,"basal ganglia calcification, idiopathic",True
7349_13766_12724_14498_18768,familial cold autoinflammatory syndrome,True
21011,hereditary progressive chorea without dementia,True
9501,metabolic myopathy due to lactate transporter defect,True
14136_24533_14134_14135,"pulmonary hypertension, primary",True
8354,purpura simplex,True
14209,early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome,True
14143_11531_14693_13186_8104_12371_14691_13379_12690_32786_12547_32839_33669_18997,Noonan syndrome,True
11710_11711_14184_724_11780_12917,specific language impairment,True
32795_32485_32919,intellectual developmental disorder,True
9788_8131,"optic atrophy, hearing loss, and peripheral neuropathy",True
9663,mucus inspissation of respiratory tract,True
31332_100326_31009,Glanzmann thrombasthenia,True
14333,"polymicrogyria, bilateral perisylvian, autosomal recessive",True
7716,alpha thalassemia-intellectual disability syndrome type 1,True
14866_12012_33850_11890_11687_12014_13758_11569_13753_10550_12640_11903_8961_14154_10877_10699_32728_7790_11527_14665_11633_12231_13644_11066_11091_11916_14735_14467_11085_11889_12096_11570_11894_10949_36484_14733_14117_14012_10549_10551_14736_11113_7311_11534_11901_10995_13338_14208_14726_13212_7307_14074_12250_11902_14566_14511_10479_7309_10689_11475_14836_54833_11674_13959_11909_7308_11675_19011_18993_15626_18995_18994_18778_44640,Charcot-Marie-Tooth disease,True
20752,EJM1,False
54802_33483_12353_54801_12729,"erythrocytosis, familial",True
7523,"Ehlers-Danlos syndrome, hypermobility type",True
10589,"Aarskog-Scott syndrome, X-linked",True
13113_15177,metaphyseal anadysplasia,True
7604,femoral-facial syndrome,True
30037,"neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures",True
8676_14346,white sponge nevus,True
9354,methylcobalamin deficiency type cblE,True
11266_8056_16107,myotonic dystrophy,True
11038,cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome,True
12985_10053_8447_913_12981_19350_94,spherocytosis,True
13316,occult macular dystrophy,True
14205,severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome,True
9933,congenital pulmonary lymphangiectasia,True
7858_7047_13980_8292_19332_16518_17675,punctate palmoplantar keratoderma,True
7478,autosomal dominant Kenny-Caffey syndrome,True
8116,oculopharyngeal muscular dystrophy,True
14968,"encephalopathy, progressive, with amyotrophy and optic atrophy",True
10149,transcobalamin II deficiency,True
9724,nail-patella-like renal disease,True
9873,pilodental dysplasia-refractive errors syndrome,True
10028,sialuria,False
10959,van den Ende-Gupta syndrome,True
13007,combined immunodeficiency due to ORAI1 deficiency,True
11888,immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency,True
7357,colonic varices without portal hypertension,True
10684,X-linked myopathy with excessive autophagy,True
11482_14396_11702_11003_14100_13479_11400_12808_11095_13848_13261_12745_12704_13371_32592_12744_7269_11840_13168_10951_12362_13373_12667_12062_13147_10542_11541_13339_14073_12746_14095_13262_11094_5021_11425_11567_12364_13030_13198_13211_5200,dilated cardiomyopathy,True
11878,Worth syndrome,True
12929,Compton-North congenital myopathy,True
10583,"Dyggve-Melchior-Clausen syndrome, X-linked",True
13431_33046_14794_9143_13428_13430_13432_14894_16817,Meier-Gorlin syndrome,True
10883,pectus excavatum-macrocephaly-dysplastic nails syndrome,True
14414,STAT3-related early-onset multisystem autoimmune disease,True
14772_13378_10927_7335_12142_13466_10906_358_29145_11276_12022_12478_13023,orofacial cleft,True
14376_13657_54837_30918_20847_13820_14486_13805_30917_12947_7974_13581_14855_30910_14858_30911_14482_14599_12869_30914_13658_30922_13819_14699_30920_13821_12960_30919_13656_14357_14580_30913_30916_13266_13509_14842_14678_13655_14617_12946_30912_100172,"intellectual disability, autosomal dominant",True
9458,Schimke immuno-osseous dysplasia,True
10841_8671_13201_12698_13202_12144_10192_7862_8670_19517_18094_11697,Waardenburg syndrome,True
9982_10775,retinitis pigmentosa inversa with deafness,True
24551,X-linked lymphoproliferative disease due to SH2D1A deficiency,True
12330,talo-patello-scaphoid osteolysis,True
14301_14307_24534_14130_8371,Dowling-Degos disease,True
30042,"proteinuria, chronic benign",True
14575_24535,Singleton-Merten syndrome,True
10820_13060,autosomal recessive Parkinson disease,True
14275_13247_30056_24525_1083,Fanconi renotubular syndrome,True
8024_8025_14259_12080_15353_8451_13884_60585_11879_13243_75,"neuronopathy, distal hereditary motor",True
9594_7982_9597_9596_138,metaphyseal chondrodysplasia,True
11738,bilateral frontoparietal polymicrogyria,True
8668_13304_10191_15628_15629_15630_15631,von Willebrand disease,True
12220_11872_8962_18306,Griscelli syndrome,True
9548,renal hypomagnesemia 5 with ocular involvement,True
10117_13039_13627,3M syndrome,True
12332,short stature-delayed bone age due to thyroid hormone metabolism deficiency,True
14800,progressive scapulohumeroperoneal distal myopathy,True
14832_13705_14876_12612_9580_12623_15020_14996_14930_12618_13706_13785_14962_13704_14409_12615_12619_14499_14524_54861_13173_14430_12617_32605_12614_13694_14759_13702_13629_14815_13528_13703_13708_13624_13707_14354_11828_13697_20850_14348_12613_30915_14649_44313_12037_13651_20846_13709,"intellectual disability, autosomal recessive",True
7517,ectrodactyly-cleft palate syndrome,True
9292,glycogen storage disease due to glycogen branching enzyme deficiency,True
7482,dyschondrosteosis-nephritis syndrome,True
8055_9715_9710,myotonia congenita,True
14709_24544_100229,Heimler syndrome,True
32827_11892_13919_11875_11491_14734_13103_12113_32699_12627_13032_11753_12338_12760,"epilepsy, idiopathic generalized, susceptibility to",True
20796_30116_14663_30118_20795_8394,Silver-Russell syndrome,True
10730,"combined immunodeficiency, X-linked",True
7397,"craniometaphyseal dysplasia, autosomal dominant",True
8798_8060_7135_11595_7867_7900_11852_13592_8125,nonsyndromic congenital nail disorder,True
60496,"neurodevelopmental disorder with hypotonia, neuropathy, and deafness",True
8656,benign paroxysmal positional nystagmus,True
11715_13871_14350_13922_13443_8869_14991_14767_13358_19342,Seckel syndrome,True
14064_7415_14496_14065_14194_14364_14063_14066_14356_20811,mitochondrial complex III deficiency nuclear,True
8766,amaurosis-hypertrichosis syndrome,True
10363_10506_10251_10352_10313_10347_10250_10322_10326_10487_10447_10453_10510_10236_10660_10361_10656_49222_10300_10488_10307_10324_10429_10451_10289_10508_30907_10497_10430_10230_10329_10266_10393_10509_10452_10256_10231_10344_10450_10489_10413_10309,"intellectual disability, X-linked",True
8370_9979_18973,dystrophy of the retinal pigment epithelium,True
11154,"acrofacial dysostosis, Palagonia type",True
8434,Smith-Magenis syndrome,True
8121,"onychogryposis, pedal, with keratosis plantaris and coarse hair",True
30067_9558_13385,treacher collins syndrome,True
8300,Prader-Willi syndrome,True
9692,primary myelofibrosis,True
9271,geroderma osteodysplastica,True
8618,"mesomelic dwarfism, Reinhardt-Pfeiffer type",True
9064,ocular cystinosis,True
9604,methemoglobin reductase deficiency,True
9035,"craniometaphyseal dysplasia, autosomal recessive",True
8800,microphthalmia with limb anomalies,True
8366,red cell permeability defect,True
13558_14885_30903_13555_8748_13559_13560_13556_13606_11997_13557_19312,Hermansky-Pudlak syndrome,True
24561_14508_7931_7933_14509_390,vitelliform macular dystrophy,True
11227,short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome,True
9229,hyaline fibromatosis syndrome,True
12254,"multiple epiphyseal dysplasia, with miniepiphyses",True
32828,"spastic tetraplegia and axial hypotonia, progressive",True
9161,"Ehlers-Danlos syndrome, dermatosparaxis type",True
9751_24309_13142_11961_13337_13839_10688_14671_8086_11002_9746_12092_13381_13634_14286_14244_19941_18213_19551,"neuropathy, hereditary sensory, motor and autonomic",True
10120_8555_14837_8556_30867_14536_12775_10743_2049_4680,thrombocytopenia,True
12915,chromosome 1q21.1 duplication syndrome,True
11669,hypotonia-cystinuria syndrome,True
11822_100344_9424_909_10503_11242_15231,Bartter disease,True
14302_12928_14568_12867_12766_13132_13239_11489_11785_11339_14304_10044_13962_11408_14018_12213_14644_12448_12787_14282_11532_12866_11445_14015_12639_12181_14295_8438_13552_14020_10043_11803_13165_13551_13342_11006_10047_14882_14016_12476_10287_12256_13048_10418_13179_14729_13401_10046_14303_11992_13737_11522_14024_12334_12453_8437_12643_10733_11862_14305_10878_19064,hereditary spastic paraplegia,True
7511,"ectodermal dysplasia, trichoodontoonychial type",True
9588,Langer mesomelic dysplasia,True
7158,arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome,True
15023,MYPN-related myopathy,True
16045,tetragametic chimerism,True
8959,CHAND syndrome,True
16562,progressive supranuclear palsy-pure akinesia with gait freezing syndrome,True
19308_9182_17612,junctional epidermolysis bullosa,True
19309,late-onset junctional epidermolysis bullosa,True
9179_7552_15553_11398_7549_9178_15552_17608_6543,dystrophic epidermolysis bullosa,True
19310_19522,recessive dystrophic epidermolysis bullosa,True
9839,progressive supranuclear palsy-parkinsonism syndrome,True
7548,transient bullous dermolysis of the newborn,True
16362_21057,classic or attenuated familial adenomatous polyposis,True
12895_11264_11200_7493_11886_9141_44811_44843_44870_44816_44817,torsion dystonia,True
18582,GCGR-related hyperglucagonemia,True
7078_12911_12912_8749_11301_19992_16165_1220,hypoparathyroidism,True
8733,familial glucocorticoid deficiency,True
10898,Autosomal dominant epilepsy with auditory features,True
11721,distal myopathy with anterior tibial onset,True
9696_14545_12904_14521_14685_13526_30936_30034_12721_10682_18126_20074,progressive myoclonic epilepsy,True
13116,congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome,True
100164_16391,permanent neonatal diabetes mellitus,True
20525_12522_30089_30088_11073_12480_30087_100165,neonatal diabetes mellitus,True
19171,familial long QT syndrome,True
13361,congenital prothrombin deficiency,True
9025_6657,apparent mineralocorticoid excess,True
8491,stiff-person syndrome,True
18279,congenital muscular dystrophy without intellectual disability,True
19960,VIPoma,False
11309,familial gestational hyperthyroidism,True
11801_20770_18996_20771,"spinocerebellar ataxia, autosomal recessive, with axonal neuropathy",True
19813,congenital tricuspid stenosis,True
12197,idiopathic aplastic anemia,True
10061,autosomal recessive cerebellar ataxia-blindness-deafness syndrome,True
14300,proximal myopathy with extrapyramidal signs,True
13028,adenosine monophosphate deaminase deficiency,True
18416_18423_14975_14827_14702_18417_18418_18419_18421_18422_18644_15089_15091_15090_18420,complex spastic paraplegia,True
16333,familial dilated cardiomyopathy,True
7345,aorta coarctation,True
10558,choroideremia-deafness-obesity syndrome,True
9793_9642_33045_8267_13035_10702_9794_14932_10336_33375_54770_10176_9795_14413_8137_15375_12049_15421_15422,orofaciodigital syndrome,True
44628,six2-related frontonasal dysplasia,True
16830,Emery-Dreifuss muscular dystrophy,True
10208,wrinkly skin syndrome,True
7744,cholesterol-ester transfer protein deficiency,True
13222_24545_13221,Miyoshi muscular dystrophy,True
12410,Finnish upper limb-onset distal myopathy,True
13125,CLAPO syndrome,True
9299,46 XX gonadal dysgenesis,True
15665,scleromyxedema,True
19977,parkinsonism with dementia of Guadeloupe,True
16206,idiopathic uveal effusion syndrome,True
9329_20713_9937,pulmonary venoocclusive disease,True
16042,late-onset isolated ACTH deficiency,True
8720,congenital isolated adrenocorticotropic hormone deficiency (disease),True
12258,epidermolysis bullosa simplex with circinate migratory erythema,True
17147,idiopathic pulmonary arterial hypertension,True
18212,familial cervical artery dissection,True
18957,pudendal neuralgia,True
14039_14198_8758_33545_32815_9504_9636_12792_13350_11283_14175_32932_18158,mitochondrial DNA depletion syndrome,True
16848_8538,temporal arteritis,True
19424,X-linked intellectual disability-acromegaly-hyperactivity syndrome,True
17994,severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency,True
20559,O'Sullivan-McLeod syndrome,True
10128,thyrocerebrorenal syndrome,True
18027,duplication/inversion 15q11,True
17335,microtriplication 11q24.1,True
10913_18808,Caroli disease,True
13433_18646_18647,sclerosing cholangitis,True
11454,patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome,True
19528,IgG4-related hepatopathy,True
18685,incessant infant ventricular tachycardia,True
9685,Miyoshi myopathy,True
10441,CK syndrome,True
44637,infantile-onset generalized dyskinesia with orofacial involvement,True
13550,distal myopathy with posterior leg and anterior hand involvement,True
44332,childhood-onset benign chorea with striatal involvement,True
8050,MYH7-related skeletal myopathy,True
19438,AL amyloidosis,True
16413,congenital hypothyroidism due to maternal intake of antithyroid drugs,True
15341,congenital panfollicular nevus (disease),True
8008,MOMO syndrome,True
18426_12041_14630_18812_16613,attenuated familial adenomatous polyposis,True
19385,steroid-responsive encephalopathy associated with autoimmune thyroiditis,True
16759_11948_14874_9166_11866_14351_12683_14349_54844_13990_54669_14485_13438_10190_12890_32831_14370_12438_12891_13853_13993_32643_20135_16396,pontocerebellar hypoplasia,True
13686,"distal myopathy, Tateyama type",True
7681,"goiter, multinodular 1, with or without Sertoli-Leydig cell tumors",True
11707,familial dyskinesia and facial myokymia,True
8960,Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome,True
7164_13776_12651_7165_12664_13354_17845,spastic ataxia,True
16162,bilateral frontal polymicrogyria,True
13359_11576_14875_16525,familial hyperaldosteronism,True
18495,X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome,True
17746,atypical Rett syndrome,True
19152_9775_13259,Oguchi disease,True
10652,X-linked intellectual disability-seizures-psoriasis syndrome,True
9379,Rotor syndrome,True
19641_19988_19989,pauci-immune glomerulonephritis,True
14077,cobblestone lissencephaly without muscular or ocular involvement,True
19547,Wells syndrome,True
9716,Richieri Costa-da Silva syndrome,True
18006,adult-onset distal myopathy due to VCP mutation,True
18834,adenylosuccinate synthetase-like 1-related distal myopathy,True
10680,X-linked Emery-Dreifuss muscular dystrophy,True
14025,lower motor neuron syndrome with late-adult onset,True
8406_14676,autosomal recessive Emery-Dreifuss muscular dystrophy,True
20336_13072_13071_13677_21569,autosomal dominant Emery-Dreifuss muscular dystrophy,True
18129,autosomal recessive cerebellar ataxia with late-onset spasticity,True
11922,adult idiopathic neutropenia,True
19617,pituitary deficiency due to empty sella turcica syndrome,True
19849,isolated micropenis,True
7495_7496_13928_13813_12789_10983_14019_14033_14627_3441_44807,dystonia,False
18475,PRKAR1B-related neurodegenerative dementia with intermediate filaments,True
13599,autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome,True
19072,intrahepatic cholestasis,True
13426,aneurysm-osteoarthritis syndrome,True
17939_18948,multiminicore myopathy,True
15532,generalized eruptive histiocytosis,True
14148,estrogen resistance syndrome,True
19018,Tako-tsubo cardiomyopathy,True
18360,neonatal lupus erythematosus,True
18463_10395_18464,phosphoribosylpyrophosphate synthetase superactivity,True
8182,nasopalpebral lipoma-coloboma syndrome,True
18637,familial chylomicronemia syndrome,True
8353,pruritic urticarial papules and plaques of pregnancy,True
18189,autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome,True
9473,isotretinoin-like syndrome,True
19093,immunodeficiency due to selective anti-polysaccharide antibody deficiency,True
20345,presynaptic congenital myasthenic syndrome,True
20347_7691_3334_16169_2335_6702,inflammatory demyelinating polyradiculoneuropathy,True
12277_14993_33620_12215_13061_14922_11076_12130_12289_18943_30927,myofibrillar myopathy,True
10155,Dorfman-Chanarin disease,True
9416,hypoinsulinemic hypoglycemia and body hemihypertrophy,True
17240_7044_13822,acrodysostosis with or without hormone resistance,True
17407,deficiency in anterior pituitary function - variable immunodeficiency syndrome,True
17408,rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome,True
16034,cleft lip with or without cleft palate,True
16614,autosomal recessive ataxia due to PEX10 deficiency,True
15529,paroxysmal Hemicrania,True
19201,thyrotoxic periodic paralysis,True
11426,aceruloplasminemia,True
44648,kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome,True
15072,liver neuroendocrine carcinoma,True
16497,paraparetic variant of Guillain-Barre syndrome,True
15059,progressive non-fluent aphasia,True
17917,maternally-inherited spastic paraplegia,True
14722,Roifman syndrome,True
19016,maternally-inherited progressive external ophthalmoplegia,True
19020,PANDAS,False
18528,congenital myopathy with myasthenic-like onset,True
10794,NARP syndrome,True
12885,SRD5A3-CDG,False
17711,pancreatic colipase deficiency,True
18977,polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG,True
15371,linear atrophoderma of Moulin,True
8938,early-onset cerebellar ataxia with retained tendon reflexes,True
14098_11448_12072_7906_13478_20088,familial partial lipodystrophy,True
19560,lupus erythematosus tumidus,True
14131,hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome,True
15085,bathing suit ichthyosis,True
13711,peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome,True
14744,acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome,True
33717,congenital cerebellar ataxia due to RNU12 mutation,True
9915,"46,XX disorder of sex development-skeletal anomalies syndrome",True
14732_33486_12824_54791_54782_9843_12905_54817_14506_12514_14666_33657_12125_14813_14632_32730,hypomyelinating leukodystrophy,True
13886,nonprogressive cerebellar atxia with intellectual disability,True
17569,de Barsy syndrome,True
7294,central core myopathy,True
17324_13219_9430_8660_44_24300,hypophosphatemic rickets,True
44651,early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome,True
12301,"mitochondrial DNA depletion syndrome, myopathic form",True
12235_13645_32923_33115_14159_8943_14530_13905_32706_14339_14311_33116_14934_13687_13392_14503_14601_14845,autosomal recessive spinocerebellar ataxia,True
16344,hydranencephaly (disease),True
11466,"distal myopathy, Welander type",True
18951,distal myopathy with vocal cord weakness,True
11603,GNE myopathy,True
14764,spastic paraplegia-severe developmental delay-epilepsy syndrome,True
10665,Wilson-Turner syndrome,True
19210,cutaneous neuroendocrine carcinoma,True
9000,familial reactive perforating collagenosis,True
19207,DEND syndrome,True
11682_30064_12755_11681_8047_7163_14476_13464_12982,episodic ataxia,True
16369_16368_10002,Rothmund-Thomson syndrome,True
9920,Acrootoocular syndrome,True
9372,encephalopathy due to hydroxykynureninuria,True
14557_14084_8842,ataxia with oculomotor apraxia,True
16755,neurofibroma,True
18604_23113,familial colorectal cancer,True
2546,schwannoma,False
33043,"spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy",True
15764,mosaic trisomy 20,True
10555_20603_10556,"chondrodysplasia punctata, X-linked",True
13227,congenital plasminogen activator inhibitor type 1 deficiency,True
9448,iminoglycinuria,True
18244,obesity due to SIM1 deficiency,True
11838,Bothnia retinal dystrophy,True
16563,progressive supranuclear palsy-corticobasal syndrome,True
16352,idiopathic inherited hypercalciuria,True
18458_7791_10926_7792,familial hypocalciuric hypercalcemia,True
16788,genetic hyperferritinemia without iron overload,True
14200,aldosterone-producing adenoma with seizures and neurological abnormalities,True
9444,ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome,True
16423_16422_9411_10012_17278,autoimmune polyendocrine,True
9936,familial primary pulmonary hypoplasia,True
20481,myotonia fluctuans,True
7725,hereditary progressive mucinous histiocytosis,True
16217,mal de Debarquement,True
18155,lateral sclerosis,True
10299,hypoxanthine guanine phosphoribosyltransferase partial deficiency,True
9054,"autosomal recessive cutis laxa type 2, classic type",True
7369,hereditary coproporphyria,True
8294,acute intermittent porphyria,True
7755,hyperimmunoglobulin G1(A1) syndrome,True
13330,agenesis of the corpus callosum and congenital lymphedema,True
8299,posterior column ataxia,True
9516,absence deformity of leg-cataract syndrome,True
7154,arteriovenous malformations of the brain,True
8622,tricho-retino-dento-digital syndrome,True
10908,loose anagen syndrome,True
20724_11305_11304_16054_820,cerebral malformation,True
13518_24464_9878,"pituitary hormone deficiency, combined",True
12309_8197_12302_18953,parietal foramina,True
7091,amelia and terminal transverse hemimelia,True
8034,"muscular dystrophy, pseudohypertrophic, with Internalized capillaries",True
13445,complement component 9 deficiency,True
8542,tetralogy of fallot,True
8134,"autosomal dominant optic atrophy, classic form",True
7816,immune suppression,True
12173,long chain 3-hydroxyacyl-CoA dehydrogenase deficiency,True
12983_14669_12464_13002_7362_14427_10905_11987_10969_13348_14153_14372_11355_12483_11395_13786_11564_11143_14068_15993,cone-rod dystrophy,True
32608_32631_32612_26720_32609_32619_32624_32630_32635_32620_30902_32613_32621_32617_32628_32910_32626_32629_26721_32606_32623_32615_32611_32625_32622_32634_32618_32610_32632_32627_32616_32633_33560_32636_30997,"mitochondrial complex 1 deficiency, nuclear",True
8037,myelinated optic nerve fibers,True
9563_17051_17053_23692_23691_23693,maple syrup urine disease,True
8898_8899_12759_111,"camptodactyly syndrome, Guadalajara",True
30019_54560_54561_11773,anauxetic dysplasia,True
13473,"Hirschsprung disease, cardiac defects, and autonomic dysfunction",True
10469,epsilon-trimethyllysine hydroxylase deficiency,True
13187_13190,"factor XIII, A subunit, deficiency",True
100221,IFAP syndrome 2,True
11311_12515_12357_13134_8328_7664_11222_11704_12101_12102_12337_12645_12646,"glaucoma 1, open angle",True
13856,"hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes",True
9599,metaphyseal dysostosis-intellectual disability-conductive deafness syndrome,True
9369,non-immune hydrops fetalis,True
8809,polyneuropathy-hand defect syndrome,True
10238_10228_10577_10484,"deafness, X-linked",True
21021,"craniodiaphyseal dysplasia, autosomal dominant",True
10264,X-linked adrenal hypoplasia congenita,True
32892,structural brain anomalies with impaired intellectual development and craniosynostosis,True
7912,lithium transport,True
9719,familial atrial myxoma,True
10182,"hypercarotenemia and vitamin A deficiency, autosomal recessive",True
8543,tetralogy of fallot and glaucoma,True
8871_8872_8873_60,microcephalic osteodysplastic primordial dwarfism,True
8109,ocular cicatricial pemphigoid,True
14439_14436_10832_14447_14440_14438_14433_14434_14441_14443_14445_44308_14446_14435_11523_8854_14432_14442_14444_14926_14437_15229,Bardet-Biedl syndrome,True
14546,myopathy due to calsequestrin and SERCA1 protein overload,True
11824_14017_30004_11627_11956_12801_13265_13258_12261_12533_12566_12567_12578_12600_12601_14041,"autism, susceptibility to",True
12909,"skeletal defects, genital hypoplasia, and intellectual disability",True
12582,interstitial lung disease due to ABCA3 deficiency,True
11950,infantile-onset autosomal recessive nonprogressive cerebellar ataxia,True
36483_14915_14577_54565_9894_14214_13569_44328_9964_14284_14907_33485_14287_14688,short-rib thoracic dysplasia with or without polydactyly,True
7373,"corneal degeneration, ribbonlike, with deafness",True
11759,Hurler-Scheie syndrome,True
11629,MOGS-CDG,False
10006_17723_17722_17721,Sandhoff disease,True
11231_11443_7367_24566_11891_12707_12224_12226_32_12681_12972,"febrile seizures, familial",True
7428,deafness-craniofacial syndrome,True
14958,Harel-Yoon syndrome,True
9397,neonatal severe primary hyperparathyroidism,True
8350,pulmonic stenosis and deafness,True
8462,split lower lip,True
10089,isolated sulfite oxidase deficiency,True
8492,stiff skin syndrome,True
11083,trichodental syndrome,True
14755,"skin creases, congenital symmetric circumferential, 2",True
32931,"pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal",True
14000_60663_32913_13988_14344_119,"congenital heart defects, multiple types",True
13038,CLOVES syndrome,True
9203_7627_13997_13996_18363,focal facial dermal dysplasia,True
13577,Lipedema (disease),True
7894,Leri pleonosteosis,True
10819_11370_19353,Stargardt disease,True
9465,multiple intestinal atresia,True
13149,"hydrops fetalis, nonimmune, with gracile bones and dysmorphic features",True
12709_13376_14059_14635_12408_13783_7996_9630_21129_170_11589_24549,microphthalmia,True
33637_33656_33651_33650_33635_33639_33652_33646_33638_33649_33654_33653_33655_33636_33645,"mitochondrial complex 4 deficiency, nuclear",True
11133,"deaf blind hypopigmentation syndrome, Yemenite type",True
9091,non-acquired combined pituitary hormone deficiency with spine abnormalities,True
13761,childhood encephalopathy due to thiamine pyrophosphokinase deficiency,True
7743,attention deficit-hyperactivity disorder,True
14313,autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity,True
13628_14780_9398_14457_14318_13882,hyperphosphatasia with intellectual disability syndrome,True
20787_20788_14631,"hypomagnesemia, seizures, and intellectual disability",True
7847,keloid formation,True
7244,Caffey disease,True
7965,"melanoma, malignant familial intraocular",True
10814,chondrodysplasia-pseudohermaphroditism syndrome,True
7032,prune belly syndrome,True
7846,KBG syndrome,True
12734,SERKAL syndrome,True
9176,epidermodysplasia verruciformis,True
8187_2050_5618_5451_5371_100081_5383_1942_1098_3265_11924_12384,anxiety disorder,True
12287,"Stickler syndrome, type I, nonsyndromic ocular",True
10201,Winchester syndrome,True
13319,chromosome 4Q32.1-q32.2 triplication syndrome,True
30876_30877_31386,cardioacrofacial dysplasia,True
10327,HSD10 mitochondrial disease,True
7475,"duodenal ulcer, hyperpepsinogenemic 1",True
12687,familial cavitary optic disc anomaly,True
13906_12926_14385_13181,amelogenesis imperfecta hypomaturation,True
8002_32641_13790_14478,mirror movements,True
17178,osteochondritis dissecans (disease),True
33618,Vissers-Bodmer syndrome,True
8537,telecanthus,True
7718,"hepatic adenomas, familial",True
7058,acropectorovertebral dysplasia,True
13544_15001_12828_14156_13545_12677_13513_14155_12816_11857_13530_12678_14340_12066_18054_12167_13100,familial atrial fibrillation,True
7770,hyperpigmentation of Fuldauer and Kuijpers,True
10438_14166_19533_100245_100243_100244,paroxysmal nocturnal hemoglobinuria,True
32777_12346_14517_11416_13470_11461_18214_12846_13448,generalized epilepsy with febrile seizures,True
12064,choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome,True
9768,"oculodentodigital dysplasia, autosomal recessive",True
30854_30855,combined osteogenesis imperfecta and Ehlers-Danlos syndrome,True
12593,brain-lung-thyroid syndrome,True
12697_14264_11999_12797_12696_8164_5349_11586_12121,otosclerosis,True
32746_32747_9273_13671,"hydatidiform mole, recurrent",True
12535,"holoprosencephaly, recurrent infections, and monocytosis",True
24519_14319_24520,renal hypodysplasia/aplasia,True
13299,chromosome 6q11-q14 deletion syndrome,True
8080,"neurofibromatosis, type III, mixed central and peripheral",True
13059_12471_14007_12472_9165_14367_12429_18866,Aicardi-Goutieres syndrome,True
8652_17546_17547,congenital vertical talus,True
9993_2579,embryonal rhabdomyosarcoma,True
44327,polycystic liver disease 4 with or without kidney cysts,True
8735,adrenocortical unresponsiveness to ACTH with postreceptor defect,True
10383_23178_23179_23180,fragile X syndrome,True
11207,"xanthomatosis, susceptibility to",True
10115,thoracic dysplasia-hydrocephalus syndrome,True
19947_10868_20704_21142_11634,rippling muscle disease,True
9360_14085,"hydrocephalus, nonsyndromic, autosomal recessive",True
32772,"brain abnormalities, neurodegeneration, and dysosteosclerosis",True
10954,"Wiskott-Aldrich syndrome, autosomal dominant form",True
8739,agenesis of cerebral white matter,True
8901,Tel Hashomer camptodactyly syndrome,True
14629,autoimmune interstitial lung disease-arthritis syndrome,True
7188,primary basilar invagination,True
12669,Legius syndrome,True
7520_11428,"ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome",True
13851,autosomal dominant aplasia and myelodysplasia,True
8819,"arteriosclerosis, severe juvenile",True
13756_8172_24546,"hypertrophic osteoarthropathy, primary",True
8788,IRIDA syndrome,True
14570_12656_14549_9670_14670_14965_13965_11868_14569_17436,lethal congenital contracture syndrome,True
10910_10941_22,nocturnal enuresis,True
12078_32570_12855_14297_12432_11963_12849_12694_13896_14664_13608_8944_14927_13764_14288_14771_13745_14928_33311_10431_32902_33310_33308_13763_33309_13824_14724_12539_13994_14770_18772_30933,Joubert syndrome,True
7437_7436_15613,dentin dysplasia,True
14220,myopathy due to myoadenylate deaminase deficiency,True
13040,atypical hemolytic-uremic syndrome with MCP/CD46 anomaly,True
14381_14884_11156_8892_11214,progressive familial intrahepatic cholestasis,True
14309,obesity due to CEP19 deficiency,True
8494,cryohydrocytosis,True
8393,Rubinstein-Taybi syndrome due to CREBBP mutations,True
32566,squalene synthase deficiency,True
19570_19569_16006_8998,Cockayne syndrome,True
7961,"megalencephaly, autosomal dominant",True
13226,combined immunodeficiency with faciooculoskeletal anomalies,True
9373,seizures-intellectual disability due to hydroxylysinuria syndrome,True
10823_7321_9112_26782_8972_14743_15776_15775_19701_8973,chondrodysplasia punctata,True
8607,triphalangeal thumbs-brachyectrodactyly syndrome,True
7084,familial focal alopecia,True
9537,lymphoid interstitial pneumonia,True
9980,retinal telangiectasia and hypogammaglobulinemia,True
13582_9759_54736_141,mosaic variegated aneuploidy syndrome,True
10632_33369_33371_10472_14477_32598_10396_32768_33361_13389_14859_14392_33373_32752_32657_14593_32663_14947_13388_14377_32808_14895_30059_13387_32880_33363_32678_13989_33366_10375_13277_33362_14917_14921_14933_14942_30054_14607_14595_14133_33370_14201_32918_14949_32813_14533_14598_10246_33368_15025_14371_54845_14360_13056_13801_14718_14719_32812_32858_30072_14505_14199_14003_14328_15000_33367_33372_15002_12245_30856_32710_32725_33364_33365_14868_29138_32822_12812_32895_14625_34106_33374_100079_14916_14647_100062_25353,developmental and epileptic encephalopathy,True
12412,complement component 7 deficiency,True
8009,monilethrix,True
7760,"hyperlipoproteinemia, type II, and deafness",True
8268,polydactyly-myopia syndrome,True
13772,congenital cataract-hearing loss-severe developmental delay syndrome,True
9408,"hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase",True
9019,congenital hereditary endothelial dystrophy of cornea,True
8442,spastic paraplegia-neuropathy-poikiloderma syndrome,True
7590,hemifacial hypertrophy,True
11158_13767_14253_11804_11383_17979,autoimmune lymphoproliferative syndrome,True
14817_9733_33280_32582_32581_32580_14099_14373_10974_14752_26726_33262_32826_14257_33203_30895_13619_12546_14818_30962,"nephrotic syndrome,",True
11845_12441_11851_11847_8000_12440_11850_12715_100246_13344_12210_12303_12331,"migraine with or without aura, susceptibility to",True
100253,Roberts-SC phocomelia syndrome,True
15003,"dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities",True
10746,"thumbs, congenital Clasped",True
7647,"gastric volvulus, intrathoracic",True
13895_14124_13635_14459_24506_14703_7034,Adams-Oliver syndrome,True
7819,solitary median maxillary central incisor syndrome,True
14294,chromosome 15q11.2 deletion syndrome,True
20632_20631_20630_20627,"epileptic encephalopathy, infantile or early childhood",True
7987,Kniest dysplasia,True
10072,"spondyloepiphyseal dysplasia tarda, autosomal recessive",True
11841,biotin-responsive basal ganglia disease,True
9378,hyper-beta-alaninemia,True
11772,B4GALT1-CDG,True
8577,"toe, misshapen",True
9954,Ramon syndrome,True
12141,"orofacial cleft 6, susceptibility to",True
9870,pili torti (disease),True
14072_13345_24554_10924,"D,L-2-hydroxyglutaric aciduria",True
7156,"arthritis, sacroiliac",True
8349,"pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities",True
9014_733,cornea plana,True
10263,Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome,True
8152,multicentric carpo-tarsal osteolysis with or without nephropathy,True
26723,"intellectual developmental disorder, X-linked 108",True
8224,hyperkalemic periodic paralysis,True
14995,"neurodevelopmental disorder with hypotonia, seizures, and absent language",True
8858,Behr syndrome,True
11911,craniolenticulosutural dysplasia,True
14811,"cerebellar atrophy, visual impairment, and psychomotor retardation;",True
7055,acromicric dysplasia,True
7502,"ear pits, posterior helical",True
7657,giant neutrophil leukocytes,True
10564,red-green color blindness,True
12997,cholestasis-pigmentary retinopathy-cleft palate syndrome,True
13412_13200_12112_7268_11843_13474_13475_13477_10946_12799_8647_12804_13455_14883_13852_13197_7267_13195_12111_13369_7266_13476_5045,hypertrophic cardiomyopathy,True
11130,"sebaceous gland hyperplasia, familial presenile",True
7056,acroosteolysis,True
7398,craniorhiny,True
8774,2-aminoadipic 2-oxoadipic aciduria,True
11229,ethylmalonic encephalopathy,True
29131,"peripheral neuropathy, autosomal recessive, with or without impaired intellectual development",True
14695_24498_13093_100242_13092_11800_13094_13095_13096_13097,glioma susceptibility,True
13151_13137_24539,"choroidal dystrophy, central areolar",True
10502,"intellectual disability, X-linked 99, syndromic, female-restricted",True
11047,deafness-epiphyseal dysplasia-short stature syndrome,True
9508,Lambotte syndrome,True
12714,early-onset myopathy with fatal cardiomyopathy,True
12998,faciocardiomelic syndrome,True
11414,Peters anomaly (disease),True
13773_17410,porencephaly,True
32684,"intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency",True
7668,globulin anomaly involving beta (2A)-globulin,True
7782,"hyperthermia, cutaneous, with headaches and nausea",True
7726,"hip dysplasia, Beukes type",True
100105,brain small vessel disease 3,True
9340,non-spherocytic hemolytic anemia due to hexokinase deficiency,True
11797,infantile-onset ascending hereditary spastic paralysis,True
10511,"vas deferens, congenital bilateral aplasia of, X-linked",True
30020_33570_14775_33533_32712_14781_54741_33534_30006_32679_54654_30008_20727_33631_54742_32726_30017_30007_54677_54781_33537_33569_14269_732_33566,combined oxidative phosphorylation deficiency,True
8837,"ataxia, deafness, and cardiomyopathy",True
16002,"Ehlers-Danlos syndrome, kyphoscoliotic type 1",True
9737,galactosialidosis,True
14226_5807,idiopathic CD4 lymphocytopenia,True
13878_32865_14613_13879_14612_148,"pulmonary fibrosis and/or bone marrow failure, telomere-related",True
9194,chronic Epstein-Barr virus infection syndrome,True
14611_33282_14132_13675_11582_54785,multiple mitochondrial dysfunctions syndrome,True
10042_11858,"spastic paraplegia, ataxia, diplegia and intellectual disability",True
10687,"nephrolithiasis, X-linked recessive, with renal failure",True
12878_14047_8021_14046_14048_14045_14802_16063,Cowden disease,True
9069,"congenital lactic acidosis, Saguenay-Lac-Saint-Jean type",True
13762,lipoic acid synthetase deficiency,True
12986,bilateral parasagittal parieto-occipital polymicrogyria,True
10354,Allan-Herndon-Dudley syndrome,True
9826,PA polymorphism of alpha-2-globulin,True
7133,anonychia-onychodystrophy with brachydactyly type b and ectrodactyly,True
10662,paraplegia-intellectual disability-hyperkeratosis syndrome,True
13415,chromosome 17p13.1 deletion syndrome,True
7314,"chemodectoma, intraabdominal, with cutaneous angiolipomas",True
8613,Tuftsin deficiency,True
21025,"cirrhosis, familial, with antigenemia",True
10970,"cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies",True
54680_10844_10964_9189_13591_7561_7562_12558_11109_11765_16648,multiple epiphyseal dysplasia,True
7722,heterochromia iridis (disease),True
9608,methionine malabsorption syndrome,True
7134,Cooks syndrome,True
7240_7701_11474_19490,progressive familial heart block,True
7659,obsolete giant platelet syndrome with thrombocytopenia,True
13122_14998_13121,"glaucoma 3, primary congenital",True
8868,biliary malformation with renal tubular insufficiency,True
8405,"scapula, contour of vertebral border of",True
9968_11268,"renal tubular acidosis, distal, with or without sensorineural hearing loss",True
7784,selective pituitary resistance to thyroid hormone,True
9452,Vici syndrome,True
13561,"chondrodysplasia with joint dislocations, gPAPP type",True
9145,SchC6pf-Schulz-Passarge syndrome,True
7895,"platyspondylic dysplasia, Torrance type",True
7993,microgastria-limb reduction defect syndrome,True
8725_17972_17973,congenital lipoid adrenal hyperplasia due to STAR deficency,True
9319_16305_16304,pantothenate kinase-associated neurodegeneration,True
9118,disseminated sclerosis with narcolepsy,True
20714,"mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy",True
10454,"intellectual disability, XMEN-linked 88",True
14272,"palmoplantar keratoderma, Nagashima type",True
12397,"brachydactyly, coloboma, and anterior segment dysgenesis",True
14152_11403_14042_14163_18901_12285,left ventricular noncompaction,True
7510,Clouston syndrome,True
9323,Halothane hepatitis,True
7293_13016_9953_17570,leukocyte adhesion deficiency,True
9569,Hennekam-Beemer syndrome,True
14806_14807_209,spinal muscular atrophy with congenital bone fractures,True
11592_7589_33123_13218_14652_11151_19516,exudative vitreoretinopathy,True
8672,Watson syndrome,True
8461,splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells,True
9169,endocardial fibroelastosis,True
9302,XY type gonadal dysgenesis-associated anomalies syndrome,True
7612,gingival fibromatosis-progressive deafness syndrome,True
11308,gracile syndrome,True
12732,"tremor, hereditary essential, and idiopathic normal pressure hydrocephalus",True
10728,SCARF syndrome,True
26767,"immunodeficiency 74, COVID-19-related, X-linked",True
9828,palant cleft palate syndrome,True
10719,radiation sensitivity of natural killer activity,True
9850,"periodontitis, chronic, adult",True
9621,microcephaly-cervical spine fusion anomalies syndrome,True
8235,pheochromocytoma-islet cell tumor syndrome,True
8933,cephalin lipidosis,True
13223,"autosomal recessive spondylometaphyseal dysplasia, Megarbane type",True
9144,Ebstein anomaly (disease),True
10194_13899_18096,Weill-Marchesani syndrome,True
60611,combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia,True
12635,COG8-CDG,False
20751_5469_15914_21272,orthostatic hypotension,True
12807_9183,epidermolysis bullosa simplex with pyloric atresia,True
13343,C1Q deficiency,True
8410,Scheuermann disease,True
32816,"neurodevelopmental disorder with ataxia, hypotonia, and microcephaly",True
8160,osteosclerosis with ichthyosis and fractures,True
9586,"mesangial sclerosis, diffuse renal, with ocular abnormalities",True
8655,"vestibulocochlear dysfunction, progressive",True
9507,Lambert syndrome,True
9960_12845_33643_11471_12831_12875_12941_13153_8617_54849_5265_12832_12610_12840_11087_11521_11661_11699_11700_11701_12040_12829_12837_12838_12841_12852_12886_12887_12940_12973_13012,inflammatory bowel disease,True
8493_14737_17910_20102,hereditary stomatocytosis,True
9389,hyperlysinemia due to defect in lysine transport into mitochondria,True
9414,glycogen storage disease due to hepatic glycogen synthase deficiency,True
32887,"neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity",True
12621,deafness-infertility syndrome,True
10148,Mounier-Kuhn syndrome,True
12798,"deafness, unilateral, with delayed endolymphatic hydrops",True
7090,"amastia, bilateral, with ureteral triplication and dysmorphism",True
12814,diastasis recti and weakness of the linea alba,True
12290,CEDNIK syndrome,True
12516_9559_14608_15483,mandibulofacial dysostosis,True
10066,familial isolated congenital asplenia,True
10588,"exudative vitreoretinopathy 2, X-linked",True
14538_12262_11181_21083_7614,congenital fibrosis of extraocular muscles,True
11110,dyssegmental dysplasia-glaucoma syndrome,True
8076,amyotrophic neuralgia,True
8768_9745_8769_14147_12588_9744_10830_12188_13866_11144_12414_8767_8083_19260_19262_16295,neuronal ceroid lipofuscinosis,True
11216_21001_11631_11417_13220_14225_19257,hemochromatosis,True
8549,"thoracic dysostosis, isolated",True
15006,"generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss",True
7756,hyperkeratosis lenticularis perstans (disease),True
9578,neurocutaneous melanocytosis,True
8561,thumb deformity (disease),True
13340_12466_13653_11896,"Parkinson disease, autosomal dominant, susceptibility to",True
14285_9134_7109_9135_13355_19403_20337,congenital dyserythropoietic anemia,True
32591,"hyperparathyroidism, transient neonatal",True
13324,lymphedema-posterior choanal atresia syndrome,True
100211,"growth hormone insensitivity with immune dysregulation 1, autosomal recessive",True
9200,eyebrow duplication-syndactyly syndrome,True
10193,Weaver syndrome,True
33613,neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities,True
13838_11829_33615_14754,"coenzyme Q10 deficiency, primary",True
9927_9554_9770_17398,3MC syndrome,True
8860,"beta-aminoisobutyric acid, urinary excretion of",True
9858,Pfeiffer-Palm-Teller syndrome,True
8364,Raynaud disease,True
9983,retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome,True
9330,"hemangiopericytoma, malignant",True
8455_9673_10056_9672_11585_11436_9669_19079_1516_16224_14753_18218,spinal muscular atrophy,True
13015_11001_13146_12743_13145_13148_14621_12742_12728_15263,Brugada syndrome,True
10492,"pituitary adenoma, growth hormone-secreting, 2",True
10314,"polymicrogyria, bilateral perisylvian, X-linked",True
9038,craniosynostosis-fibular aplasia syndrome,True
54850_13689_20857_10349_32590_54666_24463,ovarian dysgenesis,True
29144,extraoral halitosis due to methanethiol oxidase deficiency,True
11411,Chudley-McCullough syndrome,True
14397_12510_13977_14856_14728_12534_13570_14547_14636_13811_14684_13986_14398_13969_13987_13306_14190_14525_33187,combined oxidative phosphorylation defect,True
14411_11300_14982_14183_12021_12045_8053_12995_13604_13508_32941_12154_9713_14177_1384_12227_12228_12229_12230_12388_12389_12469_12932_13603,myopia,False
14637,DOCK2 deficiency,True
5148,type 2 diabetes mellitus,True
12574,Potocki-Lupski syndrome,True
10323,Atkin-Flaitz syndrome,True
20746,"contractures, pterygia, and variable skeletal fusions syndrome 1B",True
7967,melanoma and neural system tumor syndrome,True
13424,3p- syndrome,True
7607,Birt-Hogg-Dube syndrome,True
60622,neurodevelopmental disorder with severe motor impairment and absent language,True
8636_23005,double uterus-hemivagina-renal agenesis,True
9935,"pulmonary hypertension, primary, autosomal recessive",True
12793_20728,"hypouricemia, renal",True
10829,CARASIL syndrome,True
7836,IVIC syndrome,True
8325,Pseudoatrophoderma colli,True
32916,Imagawa-Matsumoto syndrome,True
14234,reticulate acropigmentation of Kitamura,True
13832_13831_7851_54771_13833_13830_15486_12069_12158_12236,keratoconus,True
7515,ectopia pupillae (disease),True
13400,"Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency",True
9951,"radiculoneuropathy, fatal neonatal",True
13521_13522_14690_7485,"dyskeratosis congenita, autosomal dominant",True
8640_12352,"vasculitis, lymphocytic",True
12218,"dandy-walker malformation with occipital cephalocele, autosomal dominant",True
8504,supravalvular aortic stenosis (disease),True
60457,autoinflammation with arthritis and dyskeratosis,True
32707,turnpenny-fry syndrome,True
11731,glucose-galactose malabsorption,True
14419,ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome,True
9575,thiamine-responsive megaloblastic anemia syndrome,True
12174,peripheral cone dystrophy,True
14146_11013_18543,autosomal dominant hypocalcemia,True
7682,granddad syndrome,True
12933_11450_13253_13669,"breast-ovarian cancer, familial, susceptibility to",True
8541,spermatic cord torsion,True
8895,hereditary arterial and articular multiple calcification syndrome,True
12575_7236,branchiootorenal syndrome,True
13143,hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency,True
9420,primary hypergonadotropic hypogonadism-partial alopecia syndrome,True
9862,dihydropteridine reductase deficiency,True
14121_8453_8026_18190,proximal spinal muscular atrophy,True
14067,short ulna-dysmorphism-hypotonia-intellectual disability syndrome,True
7440_10648_12685_694_12881_12319_12642_12686_12877_12882,major affective disorder,True
24526_14646_32854_200,Zimmermann-Laband syndrome,True
11449,Salla disease,True
12423,MORM syndrome,True
8454,spinal intradural arachnoid cysts,True
32852,"myopathy, congenital, with structured cores and z-line abnormalities",True
8551,thoracolaryngopelvic dysplasia,True
11533,temtamy preaxial brachydactyly syndrome,True
19567_19568_7522,"Ehlers-Danlos syndrome, classic type",True
7989,congenital microcoria,True
10378,X-linked hereditary sensory and autonomic neuropathy with deafness,True
8397,aplasia of lacrimal and salivary glands,True
20705,"neural tube defects, susceptibility to",True
33281_8263_33004_13131_9889_4691_20642,polycystic kidney disease,True
7872,LADD syndrome,True
11501,wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia,True
7798_9428_18570,hypophosphatasia,True
10801,spondylocamptodactyly syndrome,True
16035,Nelson syndrome,True
11078,"anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis",True
9280,monosodium glutamate sensitivity,True
14891_13128_8073_13643_608,"hyperuricemic nephropathy, familial juvenile",True
7789,hypertrophia musculorum vera,True
7096,amenorrhea-galactorrhea syndrome,True
8723,very long chain acyl-CoA dehydrogenase deficiency,True
12622,leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome,True
12044_20791_7380_32904_18102_4686,corneal dystrophy,True
11930_14055_14167_10985_54847_54846_13322_160,"epilepsy, familial adult myoclonic",True
9511,"Larsen-like syndrome, B3GAT3 type",True
7122,anisocoria (disease),True
8532,teeth present at birth (disease),True
13572,Keppen-Lubinsky syndrome,True
9206,"factor V and factor VIII, combined deficiency of, type 1",True
13136,hereditary hypotrichosis with recurrent skin vesicles,True
12439,Alagille syndrome due to a NOTCH2 point mutation,True
8376,retinal venous beading,True
10037,sodium-potassium-ATPase activity of red cell,True
12735,Temple-Baraitser syndrome,True
7809,ichthyosis hystrix gravior,True
7390,coumarin resistance,True
11612,glycine encephalopathy,True
11610,dimethylglycine dehydrogenase deficiency,True
12503,thiopurine S-methyltransferase deficiency,True
8496,storm syndrome,True
7504,thickened earlobes-conductive deafness syndrome,True
7450,neurohypophyseal diabetes insipidus,True
7172_13750_13770_12654_13123_11938_13011_7173_13567_6664,atrial septal defect,True
13641_13638_10822_14296_16649,Warburg micro syndrome,True
10055,spinal muscular atrophy with microcephaly and mental subnormality,True
8151,gnathodiaphyseal dysplasia,True
9767,"oculocerebral hypopigmentation syndrome, Cross type",True
10485,X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome,True
7127,diffuse idiopathic skeletal hyperostosis,True
8272_8286_17529_17530,polysyndactyly,True
27676_32646_12561_19719,congenital anomalies of kidney and urinary tract,True
9591_17730_17729_18868,metachromatic leukodystrophy,True
8580,"toes, space between first and second",True
100281_12491,"macroglobulinemia, Waldenstrom",True
60455,X-linked congenital hemolytic anemia,True
9327,"heart, malformation of",True
7717,hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain,True
7433,dementia/parkinsonism with non-Alzheimer amyloid plaques,True
7925,chromosome 5q deletion syndrome,True
9977,Knobloch syndrome,True
5090_13498_8414_10897_33312_10943_11552_14092_12054_11960_11280_11294_11295_11298_11307_11498_12879_13089_13506,schizophrenia,True
14535,hyperproinsulinemia,True
9185,amelocerebrohypohidrotic syndrome,True
8155,osteomesopyknosis,True
7444,"dermal Ridges, patternless",True
11921,"aural atresia, congenital",True
8900,camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia,True
9615,methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency,True
60556,"joint laxity, short stature, and myopia",True
20737,"optic atrophy 10 with or without ataxia, intellectual disability, and seizures",True
7587,external auditory canal atresia-vertical talus-hypertelorism syndrome,True
12486,"preauricular tag, isolated, autosomal dominant, 1",True
10005,saccharopinuria,True
44726,psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome,True
9407,hypertrophic neuropathy and cataract,True
10902,"spondyloepiphyseal dysplasia, Reardon type",True
12196,autosomal dominant auditory neuropathy 1,True
12446,seborrhea-like dermatitis with psoriasiform elements,True
32850,neurooculocardiogenitourinary syndrome,True
8450_15304,arachnoiditis,True
8847,atrichia with papular lesions,True
9534,chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation,True
11171,odonto-tricho-ungual-digito-palmar syndrome,True
10178,congenital bilateral aplasia of vas deferens from CFTR mutation,True
9803,congenital osteogenesis imperfecta-microcephaly-cataracts syndrome,True
9013,"convulsive disorder, familial, with prenatal or early onset",True
32893,"pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures",True
12689_12861_10350_30870_44777_54862_14322_44317_13065_14844_10706_10373_32881_44776_30939_14843_14321_12169_30985,premature ovarian failure,True
8355_10411_12457_12785_12922,"pyloric stenosis, infantile hypertrophic",True
9219,"fascial dystrophy, congenital",True
11051,"lethal short-limb skeletal dysplasia, Al Gazali type",True
10434,synovial sarcoma (disease),True
10881,mesomelia-synostoses syndrome,True
13806,familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome,True
16419,hereditary breast carcinoma,True
14677_9003_13465_9875_18852,achromatopsia,True
100095,"neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures",True
8386_11233_11097_19187,Axenfeld-Rieger syndrome,True
9619,microcephaly-micromelia syndrome,True
7302,cervical hypertrichosis with underlying kyphoscoliosis,True
10225_10359_15612,Dent disease,True
11678,homozygous 11P15-p14 deletion syndrome,True
7584,exostoses-anetodermia-brachydactyly type E syndrome,True
8825,arthrogryposis multiplex congenita-whistling face syndrome,True
12316,Majeed syndrome,True
8390,Rombo syndrome,True
20741,pyridoxine-dependent epilepsy caused by ALDH7A1 mutant,True
9902,cutaneous porphyria,True
9574,megalencephaly with dysmyelination,True
13481,chromosome 13q14 deletion syndrome,True
9168,Fowler syndrome,True
8778,"amyloidosis, cutaneous bullous",True
11420,short stature due to partial GHR deficiency,True
9082,high myopia-sensorineural deafness syndrome,True
13292,chromosome 4q21 deletion syndrome,True
12519,Rubinstein-Taybi syndrome due to 16p13.3 microdeletion,True
32939,"intellectual developmental disorder, autosomal dominant 63, with macrocephaly",True
8935,cerebellar ataxia-hypogonadism syndrome,True
44301,"aortic aneurysm, familial thoracic 11, susceptibility to",True
30055,sorbitol dehydrogenase deficiency with peripheral neuropathy,True
7632,"obsolete fragile site, Distamycin a type, rare, fra(16)(q22.1)",True
7186,gastroesophageal reflux disease,True
14250,familial hyperprolactinemia,True
10087,Sugarman brachydactyly,True
7231,brachytelephalangy-dysmorphism-Kallmann syndrome,True
7711,Bencze syndrome,True
9056,cutis verticis gyrata and intellectual disability,True
8757_19080,alopecia universalis,True
9497,Kifafa seizure disorder,True
9874,Rabson-Mendenhall syndrome,True
32742_13633,"encephalopathy, acute, infection-induced, susceptibility to",True
8185,hereditary chronic pancreatitis,True
12075,oligodontia-cancer predisposition syndrome,True
10795,oncocytic neoplasm,True
8883,"brachydactyly, type A2, with microcephaly",True
8759,oxoglutaricaciduria,True
30046,neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity,True
8363,raindrop hypopigmentation,True
13652_12179_8062_21107,narcolepsy,False
11011,skeletal dysplasia-epilepsy-short stature syndrome,True
7642,isolated agenesis of gallbladder,True
13047,glycogen storage disease due to lactate dehydrogenase M-subunit deficiency,True
9307,granulomatous disease with defect in neutrophil chemotaxis,True
7803,multiple system atrophy,True
13493,acetyl-coa carboxylase deficiency,True
32656,"microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum",True
8877,blue diaper syndrome,True
8122_17135_2017,olivopontocerebellar atrophy,True
13700,pancreatic triacylglycerol lipase deficiency,True
9549,severe early-childhood-onset retinal dystrophy,True
14254_24532_8163,otofaciocervical syndrome,True
10694,"nystagmus, myoclonic",True
8175,pacman dysplasia,True
8649,"venular insufficiency, systemic",True
9417_18555,hypogonadotropic hypogonadism,True
10109,tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities,True
9911,"prolactin deficiency, isolated",True
13815,FGFR2-related bent bone dysplasia,True
13256,chromosome 15q24 deletion syndrome,True
10151,"tricarboxylic acid cycle, defect of",True
10880_8535_14217_12532_10996,"telangiectasia, hereditary hemorrhagic,",True
11895,idiopathic hypereosinophilic syndrome,True
10916,polycystic kidney disease 3 with or without polycystic liver disease,True
9321,hallux varus-preaxial polysyndactyly syndrome,True
8344,"pulmonary edema of mountaineers, susceptibility to",True
9687,"myasthenia, congenital, refractory to acetylcholinesterase inhibitors",True
20854_29132_20607_8323,Liddle syndrome,True
12626_14164_11821_9571_13630_12695_33044_13609_13482_11296_12848,"Meckel syndrome,",True
9539,"lymphoblastic leukemia, acute, with lymphomatous features",True
9545,"macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance",True
11150,acroosteolysis-keloid-like lesions-premature aging syndrome,True
14218,severe dermatitis-multiple allergies-metabolic wasting syndrome,True
8708,acrocallosal syndrome,True
12552_8234_8082_7540_19003_17169,multiple endocrine neoplasia,True
12874_13868_8293_14479_11900_12857,porokeratosis disseminated superficial actinic,True
10328,alpha-thalassemia-myelodysplastic syndrome,True
32767_32771_8192_7273_11544_11121_13602_448,paraganglioma,True
9085,deafness-vitiligo-achalasia syndrome,True
13864_10471_7387_12555_10370_16033,Cornelia de Lange syndrome,True
9017,"corneal degeneration, band-shaped spheroid",True
13301,aromatase deficiency,True
14327,autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering,True
8518,calcaneonavicular coalition,True
8320,Protrusio acetabuli (disease),True
8503,Worster-Drought syndrome,True
8831_13441_13717_13127_12644,asphyxiating thoracic dystrophy,True
10747,X-linked dystonia-parkinsonism,True
8669,"vulvovaginitis, allergic seminal",True
33946,hereditary angioedema with C1Inh deficiency,True
10105,"teratoma, pineal",True
54794,"hydrocephalus, congenital, 3, with brain anomalies",True
8712,acrocraniofacial dysostosis,True
7403_5357_7012,Creutzfeldt Jacob disease,True
9386,hyperlexia,False
32685,"infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development",True
8889,thromboangiitis obliterans,True
13661,combined malonic and methylmalonic acidemia,True
10129,thymic-renal-anal-lung dysplasia,True
8064,"nasal bones, absence of",True
10617,male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome,True
9217,Fanconi-like syndrome,True
7270_12900_54838_12306,mo,False
17884,papillary renal cell carcinoma,True
10356,nephrogenic syndrome of inappropriate antidiuresis,True
9381,"hyperbilirubinemia, conjugated, type 3",True
7368,familial benign copper deficiency,True
7672,glomuvenous malformation,True
7046,hereditary papulotranslucent acrokeratoderma,True
10749,trigonocephaly-short stature-developmental delay syndrome,True
10242,"fetal akinesia syndrome, X-linked",True
33621,"spinal muscular atrophy, infantile, James type",True
10267,"episodic muscle weakness, X-linked",True
10643,acute leukemia (disease),True
9475,isovaleric acidemia,True
11842,Grn-related frontotemporal lobar degeneration with Tdp43 inclusions,True
10930,anophthalmia plus syndrome,True
7518,"edema, familial idiopathic, prepubertal",True
7534,Beckwith-Wiedemann syndrome,True
13049,DPM3-CDG,False
8994,"cleidocranial dysplasia, recessive form",True
8243,Pick disease,True
13583,occipital pachygyria and polymicrogyria,True
9216,glycogen storage disease due to GLUT2 deficiency,True
44350,"hyperparathyroidism, primary, caused by water clear cell hyperplasia",True
7491,dystelephalangy,True
7179,autoimmune disease,True
13507_9308_9310_9309,"granulomatous disease, chronic, autosomal recessive",True
14864_214,hypermanganesemia with dystonia,True
14953,gnb5-related intellectual disability-cardiac arrhythmia syndrome,True
13225_12923_12071_10020_6536,congenital generalized lipodystrophy,True
10098,taurodontism (disease),True
7037,achondroplasia,True
9258,classic galactosemia,True
8694,pseudoprogeria syndrome,True
7772_8329_13781_13778_13777_9917_13782_19162_19161_18638_19643,pseudohypoaldosteronism,True
9099,nephrogenic diabetes insipidus-intracranial calcification syndrome,True
60549,"congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay",True
20747_20748_8863,sitosterolemia,True
8651,vertebral hypoplasia with lumbar kyphosis,True
13169,chromosome 5p13 duplication syndrome,True
8186,pancytopenia and occlusive vascular disease,True
7735,congenital Horner syndrome (disease),True
30038,"glaucoma, primary closed-angle",True
9073_30864_10499_19078,Ritscher-Schinzel syndrome,True
7646,Gamstorp-Wohlfart syndrome,True
8362,ragweed sensitivity,True
14343_9629_15426,Desbuquois dysplasia,True
14989_20736_14990_8621,uncombable hair syndrome,True
13747_13769_10859_20290,atrioventricular septal defect,True
11908_18871_20311,myelomonocytic leukemia,True
7418,Darwinian tubercle of pinna,True
15004,"dystonia 28, childhood-onset",True
7080,glucocorticoid-remediable aldosteronism,True
9474,"isovaleric acid, inability to smell",True
32883,intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures,True
8572,"tibia, hypoplasia or aplasia of, with polydactyly",True
8936,cerebellar ataxia and neurosensory deafness,True
30077_60555_60554,"vertebral, cardiac, renal, and limb defects syndrome",True
14783_14978_218,preimplantation embryonic lethality,True
7259,craniofaciofrontodigital syndrome,True
7300,cerebral sarcoma,True
7235,branchiooculofacial syndrome,True
8361,"radius, aplasia of, with cleft lip/palate",True
11007,diaphragmatic defect-limb deficiency-skull defect syndrome,True
15015_11906_13439_14564_8967_9339_18841,congenital bile acid synthesis defect,True
10204,lysosomal acid lipase deficiency,True
11224,monomelic amyotrophy,True
18874_4643,myeloid leukemia,True
9318,Hallermann-Streiff syndrome,True
10164,"phocomelia, Schinzel type",True
14725,spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome,True
10686,N syndrome,False
9781,Onychotrichodysplasia and neutropenia,True
100219,"growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant",True
13156_13159_13160_13155_14141_33556,muscular dystrophy-dystroglycanopathy (congenital),True
10620,"hypouricemia, familial renal, due to tubular hypersecretion",True
7746,"orthostatic hypotensive disorder, Streeten type",True
7225,fibular aplasia-ectrodactyly syndrome,True
100297_31439_30953,"short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies",True
8372,retinal aplasia,True
11365,"blepharophimosis - intellectual disability syndrome, SBBYS type",True
11733_100226,parasomnia,False
8520,brachydactyly-elbow wrist dysplasia syndrome,True
8554_13794_11173_5029_10301,thrombocythemia,True
9866,"phosphoenolpyruvate carboxykinase deficiency, cytosolic",True
8426,Shprintzen-Goldberg syndrome,True
13176,ichthyosis-short stature-brachydactyly-microspherophakia syndrome,True
8685,Wolff-Parkinson-white syndrome (disease),True
13968,PGM1-CDG,False
7950,mastocytosis,True
13308,CBL-related disorder,True
12120,pyruvate dehydrogenase phosphatase deficiency,True
14658,severe achondroplasia-developmental delay-acanthosis nigricans syndrome,True
44646,early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome,True
11764_11658_13625_8199_14604_11613_14233_11562_8200_14796_17279_5180_6966_828_10796_10360_11737_13167,Parkinson disease,True
60761,neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum,True
60551_32788,"cerebellar atrophy, developmental delay, and seizures",True
8956_15674_19261,infantile neuronal ceroid lipofuscinosis,True
8776,"amyloidosis of gingiva and conjunctiva, with intellectual disability",True
11123_12919_7454_5147_10861_10862_10863_10864_10950_11016_11033_11068_11167_11168_11302_11572_12422_12920_12921_12961_13078,type 1 diabetes mellitus,True
8375,retinal detachment,True
8570_13193_13908,"thyrotoxic periodic paralysis, susceptibility to",True
9665,biotinidase deficiency,True
30066,"granulomatous disease, chronic, autosomal recessive, 5",True
9694,myeloperoxidase deficiency,True
12850_12851_79_16579,hypophosphatemia with nephrolithiasis or osteoporosis,True
7072,ADULT syndrome,True
8937,"cerebellar ataxia, benign, with thermoanalgesia",True
10078,spondyloperipheral dysplasia-short ulna syndrome,True
9126,duodenal atresia (disease),True
7525,"Ehlers-Danlos syndrome, arthrochalasis type",True
13731,MEGF10-Related Myopathy,True
9186,"epilepsy, photogenic, with spastic diplegia and intellectual disability",True
32586,"diarrhea 10, protein-losing enteropathy type",True
12006,craniosynostosis with ocular abnormalities and hallucal defects,True
13798,chromosome 16q22 deletion syndrome,True
9435,"hypospadias-intellectual disability, Goldblatt type syndrome",True
7995_169,"microphthalmia, isolated, with cataract",True
11040,"spinal dysplasia, Anhalt type",True
13729_13728_13727_144,"pregnancy loss, recurrent, susceptibility to",True
8913,"cardiac valvular defect, developmental",True
8194,Paramolar tubercle of bolk,True
7908,multiple symmetric lipomatosis,True
8843,atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome,True
30048,harderoporphyria,True
9505,lactic aciduria due to D-lactic acid,True
11758,Hurler syndrome,True
12996,AGAT deficiency,True
14331,Moyamoya disease with early-onset achalasia,True
11655,alveolar soft part sarcoma (disease),True
10317,"intellectual disability, X-linked, with or without seizures, arx-related",True
32860_32715_32665_32729_32662_32789,"intellectual developmental disorder, autosomal recessive",True
14861_213,"autoimmune disease, multisystem, infantile-onset",True
29135,"muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8",True
10559,MASA syndrome,True
10083,succinic semialdehyde dehydrogenase deficiency,True
9334,hemolytic anemia with thermal sensitivity of red cells,True
7303,cervical rib disease,True
9009,hypoplasminogenemia,True
11846_12461,"bulimia nervosa, susceptibility to",True
8795,aniridia-cerebellar ataxia-intellectual disability syndrome,True
7601,"familial Mediterranean fever, autosomal dominant",True
13904_14683_14101_14071_14120_13158_14022_14140_13157_9667_9364_13154_9678_13835,"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a",True
7514_9152,"ectopia lentis 1, isolated",True
7049,"acroleukopathy, symmetric",True
9343,"Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect",True
11818_19009_17095_17096_17097_17098_17101_17102,isolated focal cortical dysplasia,True
8213,pectus excavatum (disease),True
13541_14171_14170_32866_14116_32578_12399_14337_14341_904,complex cortical dysplasia with other brain malformations,True
14035,severe intellectual disability-progressive spastic diplegia syndrome,True
7341,cleidorhizomelic syndrome,True
8777,gelatinous drop-like corneal dystrophy,True
60621,"neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy",True
7994,micromelic bone dysplasia with cloverleaf skull,True
9973,reticular dysgenesis,True
10209_11346_721,xanthinuria,True
10599,"granulomas, congenital cerebral",True
9341,Mowat-Wilson syndrome,True
8942_114,cerebelloparenchymal disorder,True
9881,pituitary dwarfism with large sella turcica,True
7228,brachymesomelia-renal syndrome,True
9701,"myopathy, granulovacuolar lobular, with electrical myotonia",True
9565,microcephaly-glomerulonephritis-marfanoid habitus syndrome,True
10720,partial androgen insensitivity syndrome,True
8864,Biemond syndrome type 2,True
32773,uridine-cytidineuria,True
8876,Bloom syndrome,True
14391,severe combined immunodeficiency due to CTPS1 deficiency,True
11180,"broad terminal phalanges, familial",True
11008,cleft lip/palate-intestinal malrotation-cardiopathy syndrome,True
9961,renal and mullerian duct hypoplasia,True
12708,"primary lateral sclerosis, adult, 1",True
11650,"atrioventricular septal defect, susceptibility to, 2",True
7637_13203_12425_13204_13206_14228_13205_13207,"corneal dystrophy, Fuchs endothelial",True
8312,autosomal dominant prognathism,True
7636,frontorhiny,True
14329_7171_15281,atrial standstill,True
10853,"Helicobacter pylori infection, susceptibility to",True
19107,Rh deficiency syndrome,True
7412,Beare-Stevenson cutis gyrata syndrome,True
14822,15q14 microdeletion syndrome,True
10101,Teebi-Shaltout syndrome,True
14834,"dyskinesia, limb and orofacial, infantile-onset",True
13491,"megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability",True
9363,hydrocephaly-tall stature-joint laxity syndrome,True
32901,Catifa syndrome,True
10639,laryngeal abductor paralysis-intellectual disability syndrome,True
7763,nonpapillary renal cell carcinoma,True
8820,"arthrogryposis, distal, with hypopituitarism, intellectual disability, and facial anomalies",True
9802,"osteodysplasty, precocious, of Danks, Mayne, and Kozlowski",True
60640,"neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy",True
7210,"Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay",True
7877_7876,laryngeal adductor paralysis,True
9720,Keipert syndrome,True
13275,hemolytic anemia due to glucophosphate isomerase deficiency,True
2422,adamantinoma,True
11512,Brooke-Spiegler syndrome,True
8097,linear nevus sebaceus syndrome,True
19182,monogenic obesity,True
10750,ulnar hypoplasia-split foot syndrome,True
10364,X-linked intellectual disability-retinitis pigmentosa syndrome,True
9777,Oliver syndrome,True
12634,craniofacial dysplasia - osteopenia syndrome,True
9029,"cranial nerves, congenital paresis of",True
100294_31230,"mitochondrial complex II deficiency, nuclear",True
9063,ventriculomegaly-cystic kidney disease,True
10812,"macrocytosis, familial",True
11191,capillary infantile hemangioma,True
16862,Alagille syndrome due to a JAG1 point mutation,True
8817_13768,"arterial calcification, generalized, of infancy",True
8043,myoclonus-cerebellar ataxia-deafness syndrome,True
7581,"exchondrosis of pinna, posterior",True
13548,acetyl-CoA acetyltransferase-2 deficiency,True
9040,craniosynostosis-intellectual disability syndrome of 51N and Gettig,True
11117,iris pigment epithelium anomalies,True
9976_4580_1451_1455,retinal degeneration,True
7304,cervical vertebral Bridge,True
13869,adenine phosphoribosyltransferase deficiency,True
44324,Al Kaissi syndrome,True
12322_12562_7999_7733_13642_12563_7734_9349_16355_19756_16296_11616_12267,holoprosencephaly,True
9211,congenital factor VII deficiency,True
10921_2378_15380_40700,dermoid cyst,True
9057,cyanosis and hepatic disease,True
11182,trimethylaminuria (disease),True
13382,progressive demyelinating neuropathy with bilateral striatal necrosis,True
14979,"myoclonus, intractable, neonatal",True
14089,corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome,True
32714,"facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome",True
8738,"aganglionosis, total intestinal",True
8595,"trichoepitheliomas, multiple desmoplastic",True
7251,campomelic dysplasia,True
8986,circumvallate placenta syndrome,True
30063,"neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities",True
8579,"toes, relative length of first and second",True
14487,congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome,True
7831,"insect Stings, hypersensitivity to",True
32853,"myopathy, distal, 6, adult-onset, autosomal dominant",True
10940,inherited susceptibility to asthma,True
10444,X-linked dyserythropoetic anemia with abnormal platelets and neutropenia,True
8482,Sprengel deformity (disease),True
9132,dysautonomia-like disorder,True
8990,"cleft larynx, posterior",True
9362,growth delay-hydrocephaly-lung hypoplasia syndrome,True
8992,Juberg-Hayward syndrome,True
9901,Bartsocas-Papas syndrome,True
8634,"urticaria, familial localized heat",True
9848,dissecting cellulitis of the scalp,True
8401,pleomorphic adenoma,True
7857,keratosis palmaris et plantaris-clinodactyly syndrome,True
7779,autosomal dominant Opitz G/BBB syndrome,True
33640_20723_10931_10186_19642_9924_24299,vitamin D-dependent rickets,True
10670,X-linked intellectual disability-spastic quadriparesis syndrome,True
11105_7075,"alacrima, congenital",True
8916,cardiomyopathy associated with myopathy and sudden death,True
9446,ichthyosis-intellectual disability-dwarfism-renal impairment syndrome,True
14640_14395_30872_30875_14641_7105_13501_10936_30923,frontotemporal dementia and/or amyotrophic lateral sclerosis,True
8890,progressive bulbar palsy,True
7137,isolated congenital anosmia,True
12368,aminoacylase 1 deficiency,True
8423,sinus node disease and myopia,True
10054,spinal muscular atrophy with intellectual disability,True
9061,cystic fibrosis,True
8436,Sneddon syndrome,True
7153,"arteries, anomalies of",True
9392,"hyperopia, high",True
8489,"sternum, premature obliteration of sutures of",True
8635,uterine anomalies,True
32760,developmental delay with or without dysmorphic facies and autism,True
12128_13463_19443,dextro-looped transposition of the great arteries,True
32780,"hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities",True
9351,homocarnosinosis,True
11740,Carney-Stratakis syndrome,True
9518_11860_12358_12595_13185_13257,"leprosy, susceptibility to",True
42977_11114_12800,familial multiple trichoepithelioma,True
8145,Ollier disease,True
30026,retinal dystrophy with leukodystrophy,True
7586_7585_10846,"exostoses, multiple,",True
9963,Ulbright-Hodes syndrome,True
12624,acyl-CoA dehydrogenase 9 deficiency,True
7145_21908,aplasia cutis congenita,True
7927,congenital macroglossia,True
10423_10384_10458,"hypospadias, X-linked",True
9515,Norum disease,True
8203,Passovoy factor defect,True
12313_12314_12312_453,short QT syndrome,True
7176,helicoid peripapillary chorioretinal degeneration,True
7568_13418_12730_14514_14187_14950_11770,"aortic aneurysm, familial thoracic",True
14267,severe combined immunodeficiency due to IKK2 deficiency,True
9568,mast syndrome,True
11163_7783_7939_10893_7940_11164,"malignant hyperthermia, susceptibility to",True
9947,glutathione synthetase deficiency with 5-oxoprolinuria,True
11329_14862_13033,"cerebral palsy, spastic quadriplegic",True
8054_16367_1907,dermatomyositis,True
7114,angel-shaped phalango-epiphyseal dysplasia,True
7143,aortic arch anomaly-facial dysmorphism-intellectual disability syndrome,True
20745,autosomal dominant cardiac arrhythmia (Kuhn),True
33559,intellectual developmental disorder with seizures and language delay,True
44702,X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome,True
8178_507,inclusion body myopathy with Paget disease of bone and frontotemporal dementia,True
7178,aurocephalosyndactyly,True
8517,syndactyly-polydactyly-ear lobe syndrome,True
20739_7749,autosomal recessive infantile hypercalcemia,True
10834_7723_13383_10833_13384_11741_11742_12042_12710,"hirschsprung disease, susceptibility to",True
7559_12304_12305,photoparoxysmal response,True
11005,trisomy 18-like syndrome,True
10297_10318_10590_2010_10316_10366,FG syndrome,True
11257,MPI-CDG,False
32733,"global developmental delay, progressive ataxia, and elevated glutamine",True
10744,thrombocytopenia with elevated serum IgA and renal disease,True
10172,VACTERL with hydrocephalus,True
14559,progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome,True
10030,Sjogren syndrome,True
8985,ciliary dyskinesia with transposition of ciliary microtubules,True
13810,COG6-CGD,False
32782,immunodeficiency 63 with lymphoproliferation and autoimmunity,True
20647,"microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome",True
9264,gastroschisis,True
10531,contractures-ectodermal dysplasia-cleft lip/palate syndrome,True
11059,holoprosencephaly-craniosynostosis syndrome,True
9266_9265_9267_18150,Gaucher disease,True
10787,Kearns-Sayre syndrome,True
8275,familial expansile osteolysis,True
11205,medium chain 3-ketoacyl-Coa thiolase deficiency,True
9184,epidermolysis bullosa with diaphragmatic hernia,True
13252,Warsaw breakage syndrome,True
12206,"Czech dysplasia, metatarsal type",True
9557,mandibuloacral dysplasia with type A lipodystrophy,True
11913_7088_11743_12153_7089_11194_12321_15140_4975_11561_11647_11777_12344_12609_12630_12631_14265_10422_14036_14316_100088,Alzheimer disease,True
7370,"coracoclavicular joint, anomalous",True
14971,"amelogenesis imperfecta, hypomaturation type, IIa6",True
32687,"intellectual developmental disorder with abnormal behavior, microcephaly, and short stature",True
13802,infantile cerebellar-retinal degeneration,True
7594,factor 5 excess with spontaneous thrombosis,True
9666,holocarboxylase synthetase deficiency,True
8581,malposition of teeth with or without hypodontia/oligodontia,True
7479,"dwarfism, Levi type",True
10886,2q37 microdeletion syndrome,True
9925,autosomal recessive inherited pseudoxanthoma elasticum,True
7136,genetic anorectal anomalies,True
9494,Ketoadipicaciduria,True
9869,isolated Pierre-Robin syndrome,True
8976,"chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome",True
9622,Jawad syndrome,True
14918,tall stature-intellectual disability-renal anomalies syndrome,True
8940,endosteal sclerosis-cerebellar hypoplasia syndrome,True
8136,isolated optic nerve hypoplasia,True
60624,"neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter",True
12171,marfanoid habitus with situs inversus,True
14231,juvenile onset Parkinson disease 19A,True
8107,"nystagmus, hereditary vertical",True
8395,Ruvalcaba syndrome,True
13064_8519_54752_12394_17923,multiple synostoses syndrome,True
7333_11712_19508,van der Woude syndrome,True
12984,PHARC syndrome,True
13452,multisystemic smooth muscle dysfunction syndrome,True
7342,clubfoot,False
44724_9787_12435_9611_44723_9610_17359,3-methylglutaconic aciduria,True
11949,Thai symphalangism syndrome,True
9067_19745_19746,cystinuria,False
24540_12871_9078,Jervell and Lange-Nielsen syndrome,True
18881,myelodysplastic syndrome,True
8202,"Parotidomegaly, hereditary bilateral",True
32614_32666_32644_32667,"epidermodysplasia verruciformis, susceptibility to",True
14966_32588_30061_14240_20341,periventricular nodular heterotopia,True
12328,trichilemmal cyst,True
14258,congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome,True
9111,dihydropyrimidinuria,True
8699,achalasia microcephaly syndrome,True
8696,acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome,True
54813,"ehlers-danlos syndrome, classic-like, 2",True
10237,X-linked intellectual disability-plagiocephaly syndrome,True
7848,autosomal dominant keratitis,True
60641,neurodevelopmental disorder with or without seizures and gait abnormalities,True
8193,"paralysis agitans, juvenile, of Hunt",True
13496_8072_14786,"IgA nephropathy, susceptibility to",True
12200_13027_54832_12199_7378_20364_20214,posterior corneal dystrophy,True
20783_20785_12016,capillary malformation-arteriovenous malformation,True
13108_7190_12318_12934_12935_12936_13109,"leukemia, lymphocytic, susceptibility to",True
20730_30883_7275,carpal tunnel syndrome,True
7696,Emery-Nelson syndrome,True
8666,volvulus of midgut,True
10420,X-linked erythropoietic protoporphyria,True
9635,microvillus inclusion disease,True
9433_13752_4933,hypoplastic left heart syndrome,True
13741_11965_12705_12706_14639_14308_14650_15586_100032,familial temporal lobe epilepsy,True
8180,congenital velopharyngeal incompetence,True
14393_14797_13278_7919_12765,"lymphedema, hereditary",True
9190,"epiphyseal dysplasia of femoral head, myopia, and deafness",True
14277_7729_158,developmental dysplasia of the hip,True
7859,"palmoplantar keratoderma i, striate, focal, or diffuse",True
8123,autosomal dominant omodysplasia,True
7040,Sakati-Nyhan syndrome,True
11959,sweet syndrome,True
13579,methylmalonate semialdehyde dehydrogenase deficiency,True
9812,"osteomalacia, sclerosing, with cerebral calcification",True
7818,Hyper-IgE recurrent infection syndrome 1,True
5575,colorectal cancer,True
30047,"microcephaly, developmental delay, and brittle hair syndrome",True
7708,Kasabach-Merritt syndrome,True
13453_11415_8765_13454_12056_14145_12990_60650_11473_13613_32794_12723_13449_12525_13446_11458_8764_13231_13457_18998,Leber congenital amaurosis,True
11985_11971_11735_10626_11528_3947,hyper-IgM syndrome,True
11014_20555_20556_20557,pleuropulmonary blastoma,True
24556_14925_54776_14924_20310,familial focal epilepsy with variable foci,True
10726,Rett syndrome,True
11939,Spondyloenchondrodysplasia with immune dysregulation,True
9062,cystic fibrosis-gastritis-megaloblastic anemia syndrome,True
10325,"X-linked intellectual disability, Stocco dos Santos type",True
10099,Tay-Sachs disease AB variant,True
24266_14878_11827,patent ductus arteriosus,True
10135_10133_10136_11792_10137,thyroid dyshormonogenesis,True
13398_7728_13397_24516,familial acne inversa,True
14777_24567_14176,"hypotonia, infantile, with psychomotor retardation and characteristic facies",True
12756,proximal 16p11.2 microdeletion syndrome,True
9656_9657_9655_9658,Sanfilippo syndrome,True
11750,obsolete insulinoma tumor suppressor gene locus,True
12569_11915,"mitral valve prolapse, myxomatous",True
11285_13406_12767_12540_7932_14189_3004_5150_5417_14207_12659_14266_13420_13409_12419_13416_12674_100114,macular degeneration,True
44302,"congenital heart defects, dysmorphic facial features, and intellectual developmental disorder",True
44725,combined immunodeficiency due to GINS1 deficiency,True
17715,3-hydroxyacyl-CoA dehydrogenase deficiency,True
8679_11112_14779_11056_8680_8683_6058,Wilms tumor,True
60456,"cerebral sclerosis, diffuse, scholz type",True
7260,Car factor deficiency,True
13863,combined immunodeficiency due to LRBA deficiency,True
7707,hemangiomas of small intestine,True
10397,severe neonatal-onset encephalopathy with microcephaly,True
11206,ventriculomegaly with defects of the radius and kidney,True
10562,colonic atresia (disease),True
30044_20789_18828_9626,pseudo-TORCH syndrome,True
10912,"fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement",True
14236_20681_11142,"Ehlers-Danlos syndrome, musculocontractural",True
9247,frontofacionasal dysplasia,True
9051,cutaneous photosensitivity-lethal colitis syndrome,True
11771,distal spinal muscular atrophy type 3,True
14574,peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome,True
10735,Kennedy disease,True
7905,"lip, hamartomatous",True
11323,"arhinia, choanal atresia, and microphthalmia",True
7265_14114_14112_14113_15280,cardiofaciocutaneous syndrome,True
11663,juvenile primary lateral sclerosis,True
8874,Bangstad syndrome,True
12637,COG1-CDG,False
8859,"berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification",True
11476,MHC class I deficiency,True
12079_12082_12119_12377,"asperger syndrome, susceptibility to",True
11605,generalized basaloid follicular hamartoma syndrome,True
8114_1158,obsessive-compulsive disorder,True
10188,familial isolated deficiency of vitamin E,True
10552,"Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita",True
8999,Cohen syndrome,True
9400_9401_23419,hyperprolinemia,True
11120,"neural tube defects, folate-sensitive",True
24265,Duane syndrome type 1,True
12396,exercise-induced hyperinsulinism,True
10716,X-linked lethal multiple pterygium syndrome,True
7353,coloboma of macula-brachydactyly type B syndrome,True
14139_20682_7526,"Ehlers-Danlos syndrome, progeroid type",True
13947,young adult-onset distal hereditary motor neuropathy,True
7463,distal osteosclerosis,True
12495,"spondyloepimetaphyseal dysplasia, Genevieve type",True
7359,commissural lip pits,True
7470,calvarial doughnut lesions-bone fragility syndrome,True
10166,ulnar agenesis and endocardial fibroelastosis,True
13054,"microcephaly, growth retardation, cataract, hearing loss, and unusual appearance",True
7655,fissured tongue,True
7474,duodenal ulcer due to antral G-cell hyperfunction,True
11045,MMEP syndrome,True
10274_10108,testicular germ cell tumor,True
11382,sickle cell anemia,True
13063_11376,"ventricular fibrillation, paroxysmal familial",True
8732,"adrenal hypoplasia, cytomegalic type",True
11169,keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome,True
10896,pigment dispersion syndrome,True
13228,spondylo-megaepiphyseal-metaphyseal dysplasia,True
2697,ovarian gonadoblastoma (disease),True
11535_10736_9157_8464_9525_16576_11709,split hand-foot malformation,True
7713,clonic hemifacial spasm,True
13971,leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome,True
11017,Naxos disease,True
12825_4392,extraskeletal myxoid chondrosarcoma,True
8130,ophthalmoplegia-intellectual disability-lingua scrotalis syndrome,True
9204,lethal faciocardiomelic dysplasia,True
9680,congenital muscular dystrophy-infantile cataract-hypogonadism syndrome,True
13472,fatal infantile hypertonic myofibrillar myopathy,True
12381,hyperinsulinism due to INSR deficiency,True
32673_32938,"basal ganglia calcification, idiopathic, 7, autosomal recessive",True
8979,"chorea, benign familial",True
8416,palmoplantar keratoderma-sclerodactyly syndrome,True
10989,Mayer-Rokitansky-Küster-Hauser syndrome type 2,True
9426,hypoparathyroidism-retardation-dysmorphism syndrome,True
9769,oculo-palato-cerebral syndrome,True
10512_30909,"intellectual disability, X-linked, syndromic",True
12276,generalized epilepsy-paroxysmal dyskinesia syndrome,True
14061,Steel syndrome,True
13362,THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome,True
13889,short stature-optic atrophy-Pelger-HuC+t anomaly syndrome,True
8105,"nose, anomalous shape of",True
9921,holoprosencephaly-postaxial polydactyly syndrome,True
8049_14877,"myopathy, distal",True
8324,pseudoarthrogryposis,True
8866,"bifid nose, autosomal recessive",True
14358,AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome,True
7557,epidermolysis bullosa with congenital localized absence of skin and deformity of nails,True
8627,ureter cancer,True
7384,congenital trigeminal anesthesia,True
9440,"ichthyosiform erythroderma, corneal involvement, and deafness",True
7677,hyperglycinuria (disease),True
13488,"lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis",True
10379,Brunner syndrome,True
7916_19574_18178,intestinal lymphangiectasia,True
9080,split hand-foot malformation 1 with sensorineural hearing loss,True
10533,Arts syndrome,True
10901,HEC syndrome,True
9298,GOMBO syndrome,True
32645,trichohepatoneurodevelopmental syndrome,True
8526,talonavicular coalition,True
30015_20856_14887_32573_159,bone marrow failure syndrome,True
9320,Hall-Riggs syndrome,True
12253,"multiple epiphyseal dysplasia, with severe proximal femoral dysplasia",True
13325,COG5-CDG,False
7276,cat-eye syndrome,True
10709,early-onset parkinsonism-intellectual disability syndrome,True
7799,hypophosphatemic bone disease,True
8605,"triphalangeal thumb, Nonopposable",True
9050,Cushing disease due to pituitary adenoma,True
17985,congenital radioulnar synostosis,True
8790,"anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism",True
12657,Mungan syndrome,True
11135,"superior transverse scapular ligament, calcification of, familial",True
8966,Aagenaes syndrome,True
12511,preterm premature rupture of the membranes,True
8709_19796_78,acrocephalopolydactyly,True
8296,familial porphyria cutanea tarda,True
8946,"cerebral angiopathy, dysphoric",True
26771,"developmental and epileptic encephalopathy, 85, with or without midline brain defects",True
10486_30961_30965_100296_31421,Olmsted syndrome,True
9489,"hereditary palmoplantar keratoderma, Gamborg-Nielsen type",True
14368_14056_12183_7963_13133_11954_13510,"melanoma, cutaneous malignant, susceptibility to",True
14038_12820_12953_12132_12673_12821_12822_12823_12951_12952_12954,"colorectal cancer, susceptibility to",True
14999_14901_7881_7129_14749_11477_5486_11265_12583,tooth agenesis,True
8662,autosomal dominant vitreoretinochoroidopathy,True
13375,"Klippel-Feil syndrome 3, autosomal dominant",True
8408_10058,scapuloperoneal spinal muscular atrophy,True
10279,terminal osseous dysplasia-pigmentary defects syndrome,True
11928,caudal duplication,True
914_14768,"cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy,",True
8729,congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency,True
13255_8822_17123,"arthrogryposis, renal dysfunction, and cholestasis",True
9148,Rosselli-Gulienetti syndrome,True
14680_13075_24563_13921_13920,"herpes simplex encephalitis, susceptibility to",True
7882,lattice degeneration of retina leading to retinal detachment,True
7346,cochleosaccular degeneration-cataract syndrome,True
11050,microcephaly-cardiac defect-lung malsegmentation syndrome,True
14812,"metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration",True
27407_54701_12455,Kleefstra syndrome,True
8305,Currarino triad,True
8309,primary release disorder of platelets,True
8602_8601_155,triglyceride storage disease,True
14821,complex lethal osteochondrodysplasia,True
49221,"myopia 26, X-linked, female-limited",True
11966,"periventricular heterotopia with microcephaly, autosomal recessive",True
13082,Hirschsprung disease-ganglioneuroblastoma syndrome,True
7067,pyruvate kinase hyperactivity,True
34145,oculocerebrodental syndrome,True
10920,microtia,False
9646_30801,Monosomy 7 myelodysplasia and leukemia syndrome,True
10302,Ito hypomelanosis,True
9248,fructose and galactose intolerance,True
9771,oculotrichodysplasia,True
9632,"microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies",True
11232_12320_20756,familial hemiplegic migraine,True
32809,"hepatitis, fulminant viral, susceptibility to",True
14006,Schuurs-Hoeijmakers syndrome,True
14058,facial dysmorphism-immunodeficiency-livedo-short stature syndrome,True
9090,"deafness, sensorineural, autosomal-mitochondrial type",True
9792,ichthyosis-oral and digital anomalies syndrome,True
13663,platelet-activating factor acetylhydrolase deficiency (disease),True
9592,metaphyseal acroscyphodysplasia,True
7737,humeroradial synostosis (disease),True
33493_7609_11563_12378_12598,"fibromatosis, gingival",True
9427,infantile hypophosphatasia,True
9377,hyperammonemia due to N-acetylglutamate synthase deficiency,True
7634,"intellectual disability, FRA12A type",True
9285,gamma-glutamyl transpeptidase deficiency,True
32933,"chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant",True
12795,hypophosphatemic rickets and hyperparathyroidism,True
7825,"incisors, rotation of upper central",True
14242_11070_17813,van Maldergem syndrome,True
21056_44300_21055,familial adenomatous polyposis,True
14005_18013_18904_2461,membranoproliferative glomerulonephritis,True
10392,glycogen storage disease due to phosphoglycerate kinase 1 deficiency,True
8318,Proteus syndrome,True
30931_54700_30924_54699_54698,proteasome-associated autoinflammatory syndrome,True
8431,slipped femoral capital epiphyses,True
9888,"polycystic kidney, cataract, and congenital blindness",True
8885,Elsahy-Waters syndrome,True
14404,Webb-Dattani syndrome,True
15278,familial pancreatic carcinoma,True
32805,"hypopigmentation, organomegaly, and delayed myelination and development",True
11496,mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis,True
8430,skeletal dysplasia with delayed epiphyseal and carpal bone ossification,True
14955,retinal dystrophy with or without extraocular anomalies,True
32784,neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements,True
10516,"midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis",True
14342,female infertility due to zona pellucida defect,True
8424,"sella turcica, bridged",True
9849,hyperimmunoglobulinemia D with periodic fever,True
26724,Paganini-Miozzo syndrome,True
10888,endometriosis of uterus,True
7077,Tietz syndrome,True
14659_32844_24568_23,infantile liver failure,True
8339,antecubital pterygium syndrome,True
12713_12185_9593_10738_8479_16763,spondylometaphyseal dysplasia,True
10143,lethal restrictive dermopathy,True
8236,phlebectasia of lips,True
8498,"strabismus, susceptibility to",True
32680,global developmental delay with or without impaired intellectual development,True
11628,propionic acidemia,True
7431,dens in dente and palatal invaginations,True
8724,"adducted thumbs-arthrogryposis syndrome, Christian type",True
32800,"robinow syndrome, autosomal recessive 2",True
13674_54764_12444_14290_10476_24457_54763_18307,neurodegeneration with brain iron accumulation,True
8559_8560_2305,thrombophilia,True
13740,lethal occipital encephalocele-skeletal dysplasia syndrome,True
12908,complement component 6 deficiency,True
8383,rheumatoid arthritis,True
9965,Perlman syndrome,True
7213,Ballard syndrome,True
10978,"portal vein, cavernous transformation of",True
16825,mitochondrial myopathy-lactic acidosis-deafness syndrome,True
33561,deeah syndrome,True
7839,Aase-Smith syndrome,True
8700,acheiropody,True
9887,desquamative interstitial pneumonia,True
13757_12360,congenital nongoitrous hypothryoidism,True
9024,cortical blindness-intellectual disability-polydactyly syndrome,True
18945,McLeod neuroacanthocytosis syndrome,True
13726_54865,encephalopathy due to mitochondrial and peroxisomal fission defect,True
7635,Frasier syndrome,True
8207,chondromalacia patellae,True
9538,"lymphoid system deterioration, progressive",True
32868,lessel-kubisch syndrome,True
10835,pterygium colli-intellectual disability-digital anomalies syndrome,True
11134,curry-Jones syndrome,True
14315,Mitchell-Riley syndrome,True
14711_20558_19548_17058_16431_17937,intermediate Charcot-Marie-Tooth disease,True
10697,"ophthalmoplegia, external, and myopia",True
8704,short-limb skeletal dysplasia with severe combined immunodeficiency,True
7258,"canine teeth, absence of upper permanent",True
10219,xylosidase deficiency,True
8103,"noduli Cutanei, multiple, with urinary tract abnormalities",True
9755,neutrophil actin dysfunction,True
11953,familial acute necrotizing encephalopathy,True
30024,neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities,True
9752,"neuropathy, painful",True
7619,isolated congenital adermatoglyphia,True
32690,"microcephaly, growth deficiency, seizures, and brain malformations",True
12311,"spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness",True
32817,"neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies",True
10797,Pearson syndrome,True
12819,diabetic ketoacidosis,True
11036,porencephaly-cerebellar hypoplasia-internal malformations syndrome,True
33630,neurodevelopmental disorder with speech impairment and dysmorphic facies,True
14976,lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome,True
8023,muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome,True
9891,acquired polycythemia vera,True
60596,neurodevelopmental disorder with dysmorphic facies and distal limb anomalies,True
7490,carpotarsal osteochondromatosis,True
14943,mitochondrial DNA depletion syndrome 15 (hepatocerebral type);,True
30057,"neurodevelopmental, jaw, eye, and digital syndrome",True
11022,Potocki-Shaffer syndrome,True
11361,prostate cancer/brain cancer susceptibility,True
8059,Naegeli-Franceschetti-Jadassohn syndrome,True
11287,craniosynostosis-anal anomalies-porokeratosis syndrome,True
7945,"mannose 6-phosphate receptor recognition defect, Lebanese type",True
8039,tropical spastic paraparesis,True
13536,heme oxygenase 1 deficiency,True
8920,"carnitine deficiency, myopathic",True
32697,neurodevelopmental disorder and language delay with or without structural brain abnormalities,True
8865,Bietti crystalline corneoretinal dystrophy,True
14426_12299_10836_12754,nanophthalmos,True
60729_8319_1676,erythropoietic protoporphyria,True
10448,moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome,True
11639_10493,Diamond-Blackfan anemia with mandibulofacial dysostosis,True
9706,hereditary myopathy with lactic acidosis due to ISCU deficiency,True
10809,familial chronic myelocytic leukemia-like syndrome,True
14651_8673_18237_21764,acrofacial dysostosis,True
7465,distichiasis with congenital anomalies of the heart and peripheral vasculature,True
12517,atypical Gaucher disease due to saposin C deficiency,True
10565_8610,color blindness,True
13991,obesity due to congenital leptin deficiency,True
10831,familial caudal dysgenesis,True
10529_10548_10534,X-linked spinocerebellar ataxia,True
8282,"polyposis, intestinal, with multiple exostoses",True
32921,"neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation",True
8740,agnathia-otocephaly complex,True
12876,heparin cofactor 2 deficiency,True
10142,hypothyroidism due to TSH receptor mutations,True
8481,"spondylosis, cervical",True
9809,"multicentric osteolysis, nodulosis, and arthropathy",True
7693,hypertrichosis cubiti-short stature syndrome,True
8591,tremor-nystagmus-duodenal ulcer syndrome,True
32774,"cerebellar, ocular, craniofacial, and genital syndrome",True
13575,plasma fibronectin deficiency,True
9026,Costello syndrome,True
15022,intellectual developmental disorder with dysmorphic facies and ptosis,True
10057,"spinal muscular atrophy, Ryukyuan type",True
7875,Larsen syndrome,True
11337_11336_13135_9974_12146_15541_15542_33557,hemophagocytic lymphohistiocytosis,True
13934,combined immunodeficiency due to STK4 deficiency,True
10024,Beemer-Langer syndrome,True
11183,"Paget disease of bone 2, early-onset",True
11789_16995,familial meningioma,True
12629_7326_15427,paroxysmal dyskinesia,True
12136,"carnitine palmitoyl transferase II deficiency, neonatal form",True
9122,Dohle bodies and leukemia,True
13720,complement component 4b deficiency,True
7624,Flynn-Aird syndrome,True
7425,"deafness, sensorineural, with peripheral neuropathy and arterial disease",True
9531,obsolete lip prints,True
8433,small cell lung carcinoma,True
14289,macrocephaly-developmental delay syndrome,True
10138,thyrotoxicosis,True
7542_11690,Camurati-Engelmann disease,True
8583,inherited torticollis (disease),True
10740,"taurodontism, microdontia, and dens invaginatus",True
12682,susceptibility to infection due to TYK2 deficiency,True
14310,hereditary sclerosing poikiloderma with tendon and pulmonary involvement,True
9668,lethal multiple pterygium syndrome,True
7915,systemic lupus erythematosus (disease),True
7059,acrorenal syndrome,True
9425,hypomandibular faciocranial dysostosis,True
8667,von Hippel-Lindau disease,True
9376,carbamoyl phosphate synthetase I deficiency disease,True
9106,diastematomyelia,True
14865,autosomal recessive severe congenital neutropenia due to CSF3R deficiency,True
12310,"fibrosis of extraocular muscles, congenital, with synergistic divergence",True
14273,microcephaly-thin corpus callosum-intellectual disability syndrome,True
8474,"spondyloepiphyseal dysplasia tarda, autosomal dominant",True
8308,"priapism, familial idiopathic",True
32565,"ophthalmoplegia, external, with rib and vertebral anomalies",True
11719,gastrointestinal stromal tumor,True
12557,cardiomyopathy-hypotonia-lactic acidosis syndrome,True
12025_7360_11258_18878,branchiootic syndrome,True
11106,facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome,True
8326,"pseudocholinesterase, increase in plasma level of",True
24552_10494_10474,linear skin defects with multiple congenital anomalies,True
8261,"hereditary sclerosing poikiloderma, Weary type",True
20740_12806,ectodermal dysplasia and immunodeficiency,True
14186,retinitis pigmentosa with or without situs inversus,True
9521,"leukemia, acute myelocytic, with polyposis coli and colon cancer",True
7850,autosomal dominant keratitis-ichthyosis-deafness syndrome,True
7441_7442_18849,dentinogenesis imperfecta,True
14408_11313_14407,megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome,True
8791,isolated anencephaly/exencephaly,True
14023_24607_18278,congenital muscular dystrophy with intellectual disability,True
9986,"retinopathy, pigmentary, and intellectual disability",True
9153,ectopia lentis et pupillae,True
10284,Armfield syndrome,True
14941,"arthrogryposis, distal, with impaired proprioception and touch",True
7420,autosomal dominant deafness - onychodystrophy syndrome,True
14805,16p13.2 microdeletion syndrome,True
14332,hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency,True
7328,"choroidal osteoma, bilateral",True
11327,neuronal intranuclear inclusion disease,True
7861,isolated cloverleaf skull syndrome,True
8663,snowflake vitreoretinal degeneration,True
14412_7761_7762_18473_37748,hyperlipoproteinemia,True
13743,autosomal systemic lupus erythematosus type 16,True
9790,Opticocochleodentate degeneration,True
7095,ameloonychohypohidrotic syndrome,True
10391,"angioma serpiginosum, X-linked",True
12747,glycogen storage disease due to aldolase A deficiency,True
8951,cerebrocortical degeneration of infancy,True
13503_14230_7257_14642_11880_13140,"candidiasis, familial",True
14458,Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young,True
11129_9277_5041,glaucoma,False
10784,chloramphenicol toxicity,True
9603,3-hydroxyisobutyryl-CoA hydrolase deficiency,True
33546,"neurodegeneration, infantile-onset, biotin-responsive",True
27048_10764,"deafness, Y-linked",True
8801,anosmia for isobutyric acid,True
7329,"cirrhosis, familial",True
10875,"pachydermodactyly, familial",True
8093,"nevus, epidermal",True
8588,hereditary geniospasm,True
13232,"brachydactylous dwarfism, Mseleni type",True
9943,Pyle disease,True
10157,Tryptophanuria with dwarfism,True
33562,"neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia",True
7930,"Bernard-Soulier syndrome, type A2, autosomal dominant",True
7448,familial dermatographia,True
14512,PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation,True
11637,Sener syndrome,True
32876,neurodevelopmental disorder with absent language and variable seizures,True
13693_14481_17411,neonatal inflammatory skin and bowel disease,True
7125,ankyloglossia,True
8240,6-phosphogluconolactonase deficiency,True
8540,extensor tendons of finger anomalies,True
9540_9645,chronic mucocutaneous candidiasis,True
11048,epilepsy-microcephaly-skeletal dysplasia syndrome,True
9259,gamma-glutamylcysteine synthetase deficiency,True
7443,congenital unilateral hypoplasia of depressor anguli oris,True
12856,Birk-Barel syndrome,True
9547,macrosomia-microphthalmia-cleft palate syndrome,True
13170,"cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies",True
13680,cognitive impairment with or without cerebellar ataxia,True
14643,congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome,True
8348,pulmonary nodular lymphoid hyperplasia,True
9479,Johanson-Blizzard syndrome,True
32653,cardiac-urogenital syndrome,True
12803,diarrhea-vomiting due to trehalase deficiency,True
9813,chronic recurrent multifocal osteomyelitis (disease),True
14196,Hartsfield-Bixler-Demyer syndrome,True
8530,"teeth, odd shapes of",True
14757,macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome,True
9086,deafness-small bowel diverticulosis-neuropathy syndrome,True
7506,obsoleted echo virus 11 sensitivity,True
29143,intellectual developmental disorder with hypertelorism and distinctive facies,True
10051,spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome,True
8143_7704_11923_12893_12894_12568,osteoarthritis susceptibility,True
10067,splenoportal vascular anomalies,True
6277_11705,lymphangioleiomyomatosis,True
7427,deafness with anhidrotic ectodermal dysplasia,True
11149,"premature aging syndrome, Okamoto type",True
7241,"bundle branch block, familial isolated complete right",True
32832_44319,intellectual developmental disorder with dysmorphic facies,True
10004,EEC syndrome,True
7230,Brachymorphism-onychodysplasia-dysphalangism syndrome,True
10700,optic atrophy--spastic paraplegia syndrome,True
9761,cystic hygroma,True
30018,autoinflammation with episodic fever and lymphadenopathy,True
7883,lazy leukocyte syndrome,True
13404,hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase,True
10923,proximal myopathy with focal depletion of mitochondria,True
11925,congenital merosin-deficient muscular dystrophy 1A,True
9352,classic homocystinuria,True
11185,Thiel-Behnke corneal dystrophy,True
8132,optic atrophy with demyelinating disease of CNS,True
12413_10261_13734_10671_14229_16073,syndromic microphthalmia,True
32601,"inflammatory bowel disease, immunodeficiency, and encephalopathy",True
11046,"short stature, Brussels type",True
60591,"immunodeficiency, developmental delay, and hypohomocysteinemia",True
7488,Lewy body dementia,True
10038,growth delay due to insulin-like growth factor I resistance,True
7395,craniofacial-deafness-hand syndrome,True
44316,"thrombocytopenia, anemia, and myelofibrosis",True
12570,body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency,True
9679,arthrogryposis due to muscular dystrophy,True
9388,hyperlysinemia (disease),True
20759_12843_12763,"epilepsy, childhood absence, susceptibility to",True
10621,CHILD syndrome,True
9606,methemoglobinemia due to deficiency of methemoglobin reductase,True
14914,Dias-Logan syndrome,True
20722,nephrolithiasis susceptibility caused by SLC26A1,True
7434,primary failure of tooth eruption,True
7261,Carabelli anomaly of maxillary molar teeth,True
12195,arthrogryposis-severe scoliosis syndrome,True
8357,radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome,True
9313,Grubben-de Cock-Borghgraef syndrome,True
11503_13842_193,cortisone reductase deficiency,True
10800,"Wolfram syndrome, mitochondrial form",True
10708,Pallister-W syndrome,True
7633,"Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness",True
14956,Chitayat syndrome,True
13746_13749_13748_2070,ventricular septal defect,True
9404,"hypertelorism, microtia, facial clefting syndrome",True
14762_14967_13887_11546_13403_11659,"heterotaxy, visceral, autosomal",True
12802,oculoauricular syndrome,True
13808,Maffucci syndrome,True
7530,electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon,True
32758,"neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia",True
11332,"Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin",True
13796,chromosome 17q12 duplication syndrome,True
7654,"genu valgum, st. Helena familial",True
8260,Kindler syndrome,True
40503_54740,blepharocheilodontic syndrome,True
10094,spondylocarpotarsal synostosis syndrome,True
9241,fountain syndrome,True
9573,megaepiphyseal dwarfism,True
9735,Netherton syndrome,True
7182_17174_17176_17175_42964_42965,Machado-Joseph disease,True
13956,mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency,True
7451,"diabetes insipidus, nephrogenic, autosomal",True
9552,mal de Meleda,True
21571_7462_12956_12957_12958_13893,"multiple sclerosis, susceptibility to",True
11653_14681_14682_8566_8567,"thyroid cancer, nonmedullary",True
32770,intellectual developmental disorder with severe speech and ambulation defects,True
7489,dysplasia epiphysealis hemimelica,True
8969,cholesterol pneumonia,True
10330,primary ciliary dyskinesia-retinitis pigmentosa syndrome,True
33558,"autoinflammation, immune dysregulation, and eosinophilia",True
7184_5339_10410_12899,androgenetic alopecia,True
14252_11505,familial hypobetalipoproteinemia,True
11174,hyperzincemia with functional zinc depletion,True
9800_17194,Blount disease,True
7625,focal epithelial hyperplasia of the oral mucosa,True
32888,neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies,True
7966,susceptibility to uveal melanoma,True
8090,cyclic hematopoiesis,True
8302,centra precocious puberty 1,True
20853,"encephalitis/encephalopathy, mild, with reversible myelin vacuolization",True
33664,Kilquist syndrome,True
14704,skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome,True
10752,"VACTERL association, X-linked, with or without hydrocephalus",True
8153,progressive osseous heteroplasia,True
7556,epidermolysis bullosa simplex with mottled pigmentation,True
8150,osteoglophonic dwarfism,True
12883,acute promyelocytic leukemia,True
9227_14122,"myofibromatosis, infantile",True
12073,ribose-5-P isomerase deficiency,True
10825,atrioventricular defect-blepharophimosis-radial and anal defect syndrome,True
14336,intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency,True
13542_9649_11784_16820_12122,Moyamoya disease,True
11244,Marshall-Smith syndrome,True
14489,limb-girdle muscular dystrophy due to POMK deficiency,True
9272,German syndrome,True
32819_9154_26731_26732_24264_45,"hypothyroidism, congenital, nongoitrous",True
14531,amyotrohpic lateral sclerosis type 22,True
14713,"porokeratosis 9, multiple types",True
7414,Gorham-Stout disease,True
7430,dens evaginatus,True
10150_4958_5096_6082_500_514,squamous cell carcinoma,True
8418,"scleroderma, familial progressive",True
13605_24543_9242,brittle cornea syndrome,True
14869,hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome,True
13867_24537,brown-Vialetto-van Laere syndrome,True
30935_30937_30974,"mitochondrial complex 2 deficiency, nuclear",True
14553,Tenorio syndrome,True
7572,primary familial polycythemia due to EPO receptor mutation,True
9093,dermatoleukodystrophy,True
7351,coloboma of macula,True
9236,Kandori fleck retina,True
12329,short stature and Facioauriculothoracic malformations,True
24570_7767_6964_1530_1741_10837_16166_12406_21132,hyperparathyroidism,True
14886,severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome,True
9749_12411_128,giant axonal neuropathy,True
8422_14804_8785_16828_15194,sideroblastic anemia,True
7553,epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase,True
8963,Chediak-Higashi syndrome,True
9590,metachromatic leukodystrophy due to saposin b deficiency,True
14912,infantile-onset periodic fever-panniculitis-dermatosis syndrome,True
9283,glutaric acidemia type 3,True
13069,"autosomal recessive optic atrophy, OPA7 type",True
8485,sebocystomatosis,True
11021,"neuronal intestinal dysplasia, type B",True
11583_5620,cerebral amyloid angiopathy,True
8653_12573_13356_10755_14422_6007_13682_13683_13684_14161,vesicoureteral reflux,True
12872,"thrombophilia, familial, due to decreased release of tissue plasminogen activator",True
7576,esophageal cancer,True
8179,paroxysmal extreme pain disorder,True
7796_16390_20798,familial isolated hypoparathyroidism,True
10406,chromosome Xp11.22 duplication syndrome,True
11157,Gomez-Lopez-Hernandez syndrome,True
9785,opsismodysplasia,True
11601,neonatal intrahepatic cholestasis due to citrin deficiency,True
11065,Hunter-McAlpine craniosynostosis,True
32797,"myopathy, congenital, with tremor",True
10432,"thrombophilia, X-linked, due to factor 9 defect",True
10585,X-linked hypohidrotic ectodermal dysplasia,True
11249,torsion dystonia with onset in infancy,True
12084,aromatic L-amino acid decarboxylase deficiency,True
11115,spastic paraplegia and Evans syndrome,True
26730,Basilicata-Akhtar syndrome,True
9451,Nezelof syndrome,True
11713,melanoma-pancreatic cancer syndrome,True
100288,enhanced S-cone syndrome,True
10622_17264,recessive X-linked ichthyosis,True
9147_15024_7509_13983_13982,"ectodermal dysplasia, hypohidrotic/hair/nail/tooth type",True
60550_9893_29130_8266_11187_14090_32603_32785_19673_19674_20927_11813_12059_17531_17532_17533_17534,postaxial polydactyly,True
14268,combined immunodeficiency due to OX40 deficiency,True
32651,"fibrosis, neurodegeneration, and cerebral angiomatosis",True
14034,severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome,True
11197,hereditary thermosensitive neuropathy,True
7310,"Charcot-Marie-Tooth disease, Guadalajara neuronal type",True
7871,familial congenital nasolacrimal duct obstruction,True
9567,Marinesco-Sjogren syndrome,True
13391,leukoencephalopathy-dystonia-motor neuropathy syndrome,True
14062,mitochondrial DNA deletion syndrome with progressive myopathy,True
9333,mullerian derivatives-lymphangiectasia-polydactyly syndrome,True
7981,"metachromatic leukodystrophy, adult-onset, with normal arylsulfatase A",True
8042,myoclonus and ataxia,True
8065,"nasal groove, familial transverse",True
9240,formiminoglutamic aciduria,True
13836,familial steroid-resistant nephrotic syndrome with sensorineural deafness,True
11969,ALG8-CDG,False
10288,adrenomyodystrophy,True
9081,"deafness, congenital, with total albinism",True
32672,intellectual developmental disorder with cardiac defects and dysmorphic facies,True
7305,cervical vertebral dysplasia (disease),True
10040,"ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability",True
10088,mucosulfatidosis,True
8845,atonic-astatic syndrome of Foerster,True
21105,NAFLD1,False
10629,"impacted teeth, multiple",True
9412,scurvy,False
54573,Lopes-Maciel-Rodan syndrome,True
14532,autosomal dominant mitochondrial myopathy with exercise intolerance,True
13110,neurodegenerative syndrome due to cerebral folate transport deficiency,True
7873,"lactic acidosis, chronic adult form",True
9532,Miller-Dieker lissencephaly syndrome,True
8444,"spastic paraplegia, optic atrophy, and dementia",True
10538,Mononen-Karnes-Senac syndrome,True
7849,keratitis fugax hereditaria,True
8297,variegate porphyria,True
7494_12603_44202,episodic kinesigenic dyskinesia,True
11442_14814_14088_15609,advanced sleep phase syndrome,True
9205,faciocardiorenal syndrome,True
13037,Giacheti syndrome,True
10813,pancreatic beta cell agenesis with neonatal diabetes mellitus,True
9502,pyruvate dehydrogenase E2 deficiency,True
12858,primary CD59 deficiency,True
8589,"tremor of intention, ataxia, and lipofuscinosis",True
14592_9624_14516_181,microcephaly and chorioretinopathy,True
13237,"susceptibility to mononeuropathy of the median nerve, mild",True
10857,semantic dementia,True
10064,spastic ataxia-corneal dystrophy syndrome,True
7487_10843_12168_10348_11418_11689_11747,"dyslexia, susceptibility to",True
8140,ossified ear cartilages,True
14963,Shashi-Pena syndrome,True
8522,"synovial chondromatosis, familial, with dwarfism",True
11472,epidermolysis bullosa simplex due to plakophilin deficiency,True
13793,"encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency",True
10426,X-linked endothelial corneal dystrophy,True
13380_12691_100082,LEOPARD syndrome,True
14281,"cholangiocarcinoma, susceptibility to",True
8162,"otitis media, susceptibility to",True
7389_10180_15826_359,spondylocostal dysostosis,True
8879,Bowen-Conradi syndrome,True
14541,motor developmental delay due to 14q32.2 paternally expressed gene defect,True
8846,atransferrinemia,True
9342,Hirschsprung disease-deafness-polydactyly syndrome,True
7237,familial juvenile hypertrophy of the breast,True
10663,X-linked intellectual disability-hypotonic face syndrome,True
44326,developmental delay and seizures with or without movement abnormalities,True
12544,brachydactyly-syndactyly syndrome,True
10097,Tatsumi factor deficiency,True
11462,pyogenic arthritis-pyoderma gangrenosum-acne syndrome,True
7811,ichthyosis-cheek-eyebrow syndrome,True
10027,"free sialic acid storage disease, infantile form",True
14790,TMEM199-CDG,True
12930,autosomal recessive severe congenital neutropenia due to G6PC3 deficiency,True
11034,odontomicronychial dysplasia,True
8730,congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency,True
9125,"dopamine beta-hydroxylase, plasma, thermolability of",True
7622,flood factor deficiency,True
60642,"neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features",True
10152,trichomegaly-retina pigmentary degeneration-dwarfism syndrome,True
10852,chromosome 8Q12.1-q21.2 deletion syndrome,True
11975,paternal uniparental disomy of chromosome 14,True
32650,"neurodegeneration, childhood-onset, with cerebellar atrophy",True
12719,encephalopathy due to prosaposin deficiency,True
9461,male infertility due to large-headed multiflagellar polyploid spermatozoa,True
14292,leukoencephalopathy with mild cerebellar ataxia and white matter edema,True
9566,marfanoid habitus-autosomal recessive intellectual disability syndrome,True
8501,Sturge-Weber syndrome,True
15009,"hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to",True
24560,PDA1,False
14605,microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome,True
9012,multiple pterygium-malignant hyperthermia syndrome,True
9252,essential fructosuria,True
8821,"arthrogryposis, distal, with intellectual disability and characteristic facies",True
24562,sick sinus syndrome 1,True
44323,Rahman syndrome,True
8409,MYH7-related late-onset scapuloperoneal muscular dystrophy,True
9938,pulmonic stenosis (disease),True
8006,Mobius syndrome,True
7802,"hypospadias 3, autosomal",True
11245,"ichthyosis, hystrix-like, with deafness",True
14920_8210_12162_20381,patterned macular dystrophy,True
14401,tall stature-scoliosis-macrodactyly of the great toes syndrome,True
9940,pycnodysostosis,True
7264,sudden cardiac arrest,True
12739,microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome,True
44318,intellectual developmental disorder with gastrointestinal difficulties and high pain threshold,True
8231,Peyronie disease,True
13329,familial clubfoot due to 17q23.1q23.2 microduplication,True
10131_8569,"thyroid hormone resistance, generalized",True
8465,Patterson-Stevenson-Fontaine syndrome,True
9975,reticulum cell sarcoma,True
60502,"neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies",True
12931_11917,"focal segmental glomerulosclerosis, susceptibility to",True
9796,ornithine aminotransferase deficiency,True
9772,oculorenocerebellar syndrome,True
7508,Rapp-Hodgkin syndrome,True
9492,succinyl-CoA:3-ketoacid CoA transferase deficiency,True
8338,"contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A",True
10972,hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome,True
8254,"platelet disorder, undefined",True
10179,isolated right ventricular hypoplasia,True
7852,palmoplantar keratoderma-deafness syndrome,True
54842,polycystic kidney disease 6 with or without polycystic liver disease,True
14355,"cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis",True
8135,optic atrophy with negative Electroretinograms,True
12712,dystonia with cerebellar atrophy,True
11676,PHACE syndrome,True
10146,Kerion celsi,True
8870,"bird headed-dwarfism, Montreal type",True
11405,poikiloderma with neutropenia,True
11077,"microcephaly, corpus callosum dysgenesis, and cleft lip/palate",True
11225,severe combined immunodeficiency due to DCLRE1C deficiency,True
9942,pyknoachondrogenesis,True
9358,Hutterite cerebroosteonephrodysplasia syndrome,True
32716,"leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate",True
8367,red cell phospholipid defect with hemolysis,True
7083_8923,palmoplantar keratoderma and congenital alopecia,True
9814,osteopenia-intellectual disability-sparse hair syndrome,True
7423,"deafness, mid-tone neural",True
7301,cerebrocostomandibular syndrome,True
9581,intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome,True
13670,"myopia, high, with cataract and vitreoretinal degeneration",True
60733,humerofemoral hypoplasia with radiotibial ray deficiency,True
10018,second metatarsal-metacarpal syndrome,True
13260_12451,"esophagitis, eosinophilic",True
12055,Larsen-like osseous dysplasia-short stature syndrome,True
9403,hypertelorism and tetralogy of fallot,True
9600,"metaphyseal dysplasia, anetoderma, and optic atrophy",True
7936,"macular dystrophy, fenestrated sheen type",True
9996,"rhizomelic syndrome, Urbach type",True
10189,"vitiligo, progressive, with intellectual disability and urethral duplication",True
7177,auriculoosteodysplasia,True
9913,"prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness",True
10205,Wolman disease with hypolipoproteinemia and acanthocytosis,True
7197,bladder diverticulum (disease),True
8313_13124,"pelvic organ prolapse, susceptibility to",True
9445,ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome,True
9034,craniofacial dyssynostosis,True
10566_10335_10245_21155,X-linked cone-rod dystrophy,True
8544,tetramelic monodactyly,True
7121,"aniridia, microcornea, and spontaneously Reabsorbed cataract",True
10388,"rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked",True
9173,congenital enteropathy due to enteropeptidase deficiency,True
9541,"lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis",True
12081,15q11q13 microduplication syndrome,True
7116,hereditary neurocutaneous angioma,True
32878,"neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia",True
7108_2941_3199_4707,anal carcinoma,True
7826,"incisors, shovel-shaped",True
14974,"sudden cardiac failure, alcohol-induced",True
9238,hereditary folate malabsorption,True
8167,dermoid cyst of ovary,True
13944,autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation,True
14668_14667_11451_14051,"cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency",True
13115,RIN2 syndrome,True
7887,leiomyoma of vulva and esophagus,True
9773_17134,odonto-onycho dysplasia-alopecia,True
11736,Cree intellectual disability syndrome,True
9966,NPHP3-related Meckel-like syndrome,True
14952,intellectual disability-epilepsy-extrapyramidal syndrome,True
7144,"aortic arch interruption, facial palsy, and retinal coloboma",True
12786,juvenile cataract-microcornea-renal glucosuria syndrome,True
14306,vasculitis due to ADA2 deficiency,True
8346_20553,pulmonary hemosiderosis,True
7834,islet cell adenomatosis,True
13021,sterile multifocal osteomyelitis with periostitis and pustulosis,True
7835,intussusception,True
10525,"neural tube defects, X-linked",True
8129,"ophthalmoplegia, familial total, with iris transillumination",True
9158,"Ehlers-Danlos syndrome, fibronectinemic type",True
8604,triphalangeal thumb with double phalanges,True
32779,neurodevelopmental disorder with microcephaly and structural brain anomalies,True
5298,osteoporosis,True
10879,CODAS syndrome,True
10147,"tongue, pigmented fungiform papillae of",True
8848,atrioventricular dissociation (disease),True
8269_17524,polydactyly of a biphalangeal thumb,True
9999,autosomal recessive Robinow syndrome,True
44660,menstrual cycle-dependent periodic fever,True
13334,cocoon syndrome,True
7043_19661_19659_19660,Pfeiffer syndrome,True
8587,tracheobronchopathia osteochondroplastica,True
32875,short stature and microcephaly with genital anomalies,True
8311,progeria-short stature-pigmented nevi syndrome,True
8941,hepatic fibrosis-renal cysts-intellectual disability syndrome,True
8630,"urinary bladder, atony of",True
9124,Dubowitz syndrome,True
11352,"neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia",True
10408,syndactyly-telecanthus-anogenital and renal malformations syndrome,True
10035,Smith-Lemli-Opitz syndrome,True
7560,reading seizures,True
8036,"myasthenia, limb-girdle, autoimmune",True
8782,amyotrophic lateral sclerosis with polyglucosan bodies,True
7224,"brachydactyly, type E, with atrial septal defect, type 2",True
13795_9226_16068,fibrochondrogenesis,True
10911_3430_6388,prolactin producing pituitary gland tumor,True
7513,ectodermal dysplasia with adrenal cyst,True
9905,urban-Rogers-Meyer syndrome,True
32829,neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities,True
7070,adiposis dolorosa,True
14248,autism spectrum disorder - epilepsy - arthrogryposis syndrome,True
10655,X-linked intellectual disability with marfanoid habitus,True
10982,ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin,True
12791,"mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria",True
7256_18902_16216_3243,hepatocellular carcinoma,True
7605,fibrinolytic defect,True
11049,fine-Lubinsky syndrome,True
8922,Sengers syndrome,True
10999,fallot complex-intellectual disability-growth delay syndrome,True
10017,sea-blue histiocyte syndrome,True
11487_11299_11671_15548,Huntington disease-like,True
9395,hyperostosis corticalis generalisata,True
32867_11739_13235_13685_13236,"pancreatic cancer, susceptibility to",True
9860,phenformin 4-hydroxylation,True
11506_19448_17704_13981,familial myoclonic epilepsy,True
7920,Meige disease,True
100129,intracranial arachoid cyst,True
12927,chromosome 1q41-q42 deletion syndrome,True
8939,isolated cerebellar hypoplasia/agenesis,True
14379,ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder,True
9207,"factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor",True
9139,"dyssegmental dysplasia, Rolland-Desbuquois type",True
11374_7750_5439,familial hypercholesterolemia,True
7631,"chromosome 16p12.1 deletion syndrome, 520kb",True
7740,Wagner disease,True
9087,"deafness, neural, congenital moderate",True
8283,Cronkhite-Canada syndrome,True
32807,neurodevelopmental disorder with visual defects and brain anomalies,True
11706,Kufor-Rakeb syndrome,True
7371,cornea guttata with anterior polar cataracts,True
9422,hypohidrosis with abnormal palmar dermal Ridges,True
10007,microbrachycephaly-ptosis-cleft lip syndrome,True
9760,Norman-Roberts syndrome,True
11054,autosomal recessive amelia,True
13360,"brachyolmia, Maroteaux type",True
8403,scalp defects-postaxial polydactyly syndrome,True
14716,macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome,True
10013,schneckenbecken dysplasia,True
10084,"sucrosuria, hiatus hernia and intellectual disability",True
8633,Muckle-Wells syndrome,True
7863,Kleine-Levin syndrome,True
14935_24550_15942,frontometaphyseal dysplasia,True
11202,RHYNS syndrome,True
9811,osteoma of middle ear,True
9602,"metaphyseal modeling abnormality, skin lesions, and spastic paraplegia",True
12017,Parkes Weber syndrome,True
14747,familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome,True
7082_12551_5340,alopecia areata,True
14896,congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome,True
10036_14808_8964_45032_15170,congenital secretory diarrhea,True
8562,thumb deformity-alopecia-pigmentation anomaly syndrome,True
8035,"muscular hypoplasia, congenital universal, of Krabbe",True
24507_14937_14938_19172,aniridia,False
7785,"hyperthyroxinemia, dystransthyretinemic",True
11929,chromosome 1p36 deletion syndrome,True
8921,carnosinemia,True
19475,subcutaneous panniculitis-like T-cell lymphoma,True
8802,"antithrombin, familial hemorrhagic diathesis due to",True
7748_11802,"hypercalciuria, absorptive",True
8689,dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema,True
44871,"dystonia, focal, task-specific",True
15007,"spastic paraplegia, intellectual disability, nystagmus, and obesity;",True
14851_212,"hypercalcemia, infantile",True
8102,"sick sinus syndrome 2, autosomal dominant",True
10390_18138,ocular albinism with sensorineural deafness,True
7615,laurin-Sandrow syndrome,True
9058,cystathioninuria (disease),True
11292,"dermatitis, atopic",True
14911,"growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy",True
33864,infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome,True
9380,Dubin-Johnson syndrome,True
12211,MPDU1-CDG,False
8957,"cervical vertebrae, agenesis of",True
10917_7319_1314,chondrocalcinosis,True
15010,atypical glycine encephalopathy,True
7174,Lown-Ganong-Levine syndrome,True
32745,developmental delay with variable intellectual impairment and behavioral abnormalities,True
20780_20778_14980,cone-rod dystrophy and hearing loss,True
10050,spastic pseudosclerosis,True
10885,angiokeratoma corporis diffusum with arteriovenous fistulas,True
9743,"neurologic disease, infantile multisystem, with osseous fragility",True
12074_16584,mandibuloacral dysplasia,True
10882,aphalangy-syndactyly-microcephaly syndrome,True
9671,intellectual disability-myopathy-short stature-endocrine defect syndrome,True
9503,pyruvate dehydrogenase E3-binding protein deficiency,True
12148,"obsolete drug metabolism, poor, CYP2D6-related",True
12315,distal 10q deletion syndrome,True
60707,Ververi-Brady syndrome,True
8806,Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome,True
10919,"varicella, severe recurrent",True
8404,scalp-ear-nipple syndrome,True
13648,familial progressive hyperpigmentation,True
32600,snijders blok-campeau syndrome,True
14206,severe early-onset pulmonary alveolar proteinosis due to MARS deficiency,True
7683,Grant syndrome,True
18274,GM3 synthase deficiency,True
9914,pseudodiastrophic dysplasia,True
9232,Fuhrmann syndrome,True
14773,cardiac anomalies - developmental delay - facial dysmorphism syndrome,True
9406,hypertrichotic osteochondrodysplasia Cantu type,True
14255,complement factor b deficiency,True
32823,intellectual developmental disorder 60 with seizures,True
8906,obsolete carbimazole sensitivity,True
9884,platelet prostacyclin receptor defect,True
10891,lethal hemolytic anemia-genital anomalies syndrome,True
10196,Werner syndrome,True
13281,COG4-CDG,False
12817,Ewing sarcoma,True
54637_54588_11899,Noonan syndrome-like disorder with loose anagen hair,True
13664,"46,XY disorder of sex development due to testicular 17,20-desmolase deficiency",True
54750_60670,"amyotrophic lateral sclerosis, susceptibility to",True
8750,microcephaly-albinism-digital anomalies syndrome,True
11816,lathosterolosis,True
8063,"nasal alar collapse, bilateral",True
8246,pigmented paravenous retinochoroidal atrophy,True
9731,nephrosis-deafness-urinary tract-digital malformations syndrome,True
10446,X-linked cone dysfunction syndrome with myopia,True
7200,blepharonasofacial malformation syndrome,True
9738_19346_17734,sialidosis,False
11012,African iron overload,True
8807,"apnea, central sleep",True
7960,megacystis-microcolon-intestinal hypoperistalsis syndrome,True
8012,Monophalangy of great toe,True
14162,infantile hypertrophic cardiomyopathy due to MRPL44 deficiency,True
8797,anodontia,False
12611,"polyhydramnios, megalencephaly, and symptomatic epilepsy",True
8057_11525,"Carney complex,",True
8352,"pupillary membrane, persistence of",True
9103_12431,diaphragmatic hernia,True
6065_100345,lactose intolerance,True
14380,colobomatous microphthalmia-rhizomelic dysplasia syndrome,True
8693,ablepharon macrostomia syndrome,True
9825,5-oxoprolinase deficiency (disease),True
14554,infantile multisystem neurologic-endocrine-pancreatic disease,True
7499,ear folding,True
9359,multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome,True
12107,"neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia",True
9880,short stature-pituitary and cerebellar defects-small sella turcica syndrome,True
8061,nail-patella syndrome,True
7066,"adenosine triphosphatase deficiency, anemia due to",True
10871,succinic acidemia,True
30070,"heterotaxy, visceral, 9, autosomal, with male infertility",True
56795_10647_25354,X-linked spermatogenic failure,True
14880,Duane retraction syndrome 3 with or without deafness,True
9022,"corpus callosum, agenesis of",True
9721,Nathalie syndrome,True
60562,"encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities",True
32675,"myasthenic syndrome, congenital, 25, presynaptic",True
7970,melorheostosis,True
60631,Alkuraya-Kucinskas syndrome,True
9220,"visceral steatosis, congenital",True
8249,pilonidal sinus (disease),True
14429,autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency,True
11004,lissencephaly type 3-metacarpal bone dysplasia syndrome,True
8215,adult-onset autosomal dominant demyelinating leukodystrophy,True
7921,yellow nail syndrome,True
8980,ataxia-hypogonadism-choroidal dystrophy syndrome,True
60507,retinal dystrophy with or without macular staphyloma,True
9459,"channelopathy-associated congenital insensitivity to pain, autosomal recessive",True
10145,"tibia, absence of, with congenital deafness",True
54754,"encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8",True
8861,3-methylcrotonyl-CoA carboxylase 1 deficiency,True
7350_9002,"coloboma, ocular",True
8664,autosomal dominant neovascular inflammatory vitreoretinopathy,True
8818,arterial tortuosity syndrome,True
14561,"3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia",True
9331,isolated hemihyperplasia,True
32942,neurodevelopmental disorder with microcephaly and dysmorphic facies,True
8787,microcytic anemia with liver iron overload,True
8793,"angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert",True
13046,glycogen storage disease due to muscle beta-enolase deficiency,True
11812,Duane-radial ray syndrome,True
14700,neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation,True
9096,hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia,True
7393,cranioacrofacial syndrome,True
9922,Pseudouridinuria and mental defect,True
7640,Sorsby's fundus dystrophy,True
12505_14359_12509_13616_15999,primary pigmented nodular adrenocortical disease,True
8228,pernicious anemia,True
8141,"ossicular malformations, familial",True
20840,pulmonary alveolar proteinosis with hypogammaglobulinemia,True
30869,spermatogenic failures 50,True
14572,Lichtenstein-Knorr syndrome,True
12219,"spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type",True
32814_18786,pontine autosomal dominant microangiopathy with leukoencephalopathy,True
8095,nevus anemicus (disease),True
9543,prominent glabella-microcephaly-hypogenitalism syndrome,True
11131,tricho-oculo-dermo-vertebral syndrome,True
8184,"pancreas, dorsal, agenesis of",True
8448,spheroid body myopathy,True
8814,hyperargininemia,True
15021,"hypotonia, ataxia, and delayed development syndrome",True
8490,"otospondylomegaepiphyseal dysplasia, autosomal dominant",True
32937,"myopathy, congenital proximal, with minicore lesions",True
9326,congenital heart block,True
11575,cerebrooculonasal syndrome,True
24555_13058_13490_137_11391,megalencephalic leukoencephalopathy with cysts,True
100058_9385,hypervalinemia and hyperleucine-isoleucinemia,True
9233,Fibulo-ulnar hypoplasia-renal anomalies syndrome,True
9865,glycogen storage disease due to phosphoglycerate mutase deficiency,True
24524_14169_7483_736_12993,dyschromatosis universalis hereditaria,True
8523,Blau syndrome,True
8382,"retinoschisis, autosomal dominant",True
8332,pseudo-von Willebrand disease,True
8578,"toe, rotated fifth",True
10904,"setting-Sun phenomenon, familial benign",True
11722,intellectual disability-obesity-prognathism-eye and skin anomalies syndrome,True
32799,mitochondrial DNA depletion syndrome 16 (hepatic type),True
11874,neonatal ichthyosis-sclerosing cholangitis syndrome,True
12013,glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome,True
9436,congenital hypothalamic hamartoma syndrome,True
7246,"calcific aortic disease with immunologic abnormalities, familial",True
12526_15053_19623_15054,hereditary angioedema,True
14243,Prader-Willi syndrome due to point mutation,True
14846,autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency,True
9723,Leigh syndrome,True
14795,"exercise intolerance, riboflavin-responsive",True
33532,Suleiman-El-Hattab syndrome,True
14262,Rienhoff syndrome,True
34054,severe combined immunodeficiency due to CD70 deficiency,True
10596,"membranoproliferative glomerulonephritis, X-linked",True
7896_4600_4614_875,monocytic leukemia,True
9766,oculocerebral hypopigmentation syndrome of Preus,True
16532,Lennox-Gastaut syndrome,True
7565,familial cylindromatosis,True
7853,palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome,True
11490,diffuse panbronchiolitis,True
33619,"myopathy, epilepsy, and progressive cerebral atrophy",True
10412,X-linked intellectual disability-craniofacioskeletal syndrome,True
7865,knuckle pads,True
8924,congenital cataract-ichthyosis syndrome,True
7924,Bannayan-Riley-Ruvalcaba syndrome,True
30033,"seizures, early-onset, with neurodegeneration and brain calcifications",True
54835_54836_13150,infantile dystonia-parkinsonism,True
9587,mesoaxial hexadactyly and cardiac malformation,True
9006,complement component 2 deficiency,True
9620,Say-Barber-Miller syndrome,True
9456,Immunoerythromyeloid hypoplasia,True
7639,fundus albipunctatus,True
8594,familial multiple discoid fibromas,True
14791,Luscan-Lumish syndrome,True
10380,"cataract, ataxia, short stature, and intellectual disability",True
14596_19450_15034_15035_15036_15037_15038_15039,lissencephaly with cerebellar hypoplasia,True
11421_14091_13546_13547,"mitochondrial complex V (ATP synthase) deficiency, nuclear",True
7545,Eosinophilopenia,True
7972,Meniere disease,True
8048_15705_18947,centronuclear myopathy,True
12184,Pierson syndrome,True
32848,"immunodeficiency 65, susceptibility to viral infections",True
12124,sudden infant death-dysgenesis of the testes syndrome,True
24564_15026,cerebroretinal microangiopathy with calcifications and cysts,True
9453,immune deficiency disease,True
7699,Hashimoto thyroiditis,True
13800,"Ehlers-Danlos syndrome, kyphoscoliotic and deafness type",True
7830,insensitivity to pain with hyperplastic Myelinopathy,True
8341,ptosis-strabismus-ectopic pupils syndrome,True
10232,"intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked",True
19407,"microcephalic osteodysplastic dysplasia, Saul-Wilson type",True
7480,dwarfism with stiff joints and ocular abnormalities,True
26763,"holoprosencephaly 13, X-linked",True
24293,"polyposis, gastric, Dos Santos and de Magalhaes 1980",True
8977,chondrosarcoma (disease),True
8665,ptosis-vocal cord paralysis syndrome,True
14954_20684,"Ehlers-Danlos syndrome, periodontal",True
8251,pityriasis rubra pilaris,True
7206,"bone pain, periodic",True
8303,familial male-limited precocious puberty,True
7776,"hypersensitivity pneumonitis, familial",True
9560,oculotrichoanal syndrome,True
9556,malonic aciduria,True
9536,chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation,True
10790,MERRF syndrome,True
7344,"cluster headache, familial",True
12114,"Ehlers-Danlos syndrome, Beasley-Cohen type",True
13271,frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome,True
7464,obsolete isolated distichiasis,True
20765_20766,"neuropathy, congenital hypomyelinating",True
100103_100102_100104_100101_8824,fetal akinesia deformation sequence,True
10623,ichthyosis and male hypogonadism,True
32870,intellectual developmental disorder with short stature and behavioral abnormalities,True
13659,microcephaly-capillary malformation syndrome,True
9109,lysinuric protein intolerance,True
11972,ovarian hyperstimulation syndrome,True
11397,"autosomal dominant cerebellar ataxia, deafness and narcolepsy",True
14213,intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome,True
7132,anonychia-ectrodactyly,True
8568,thyroid hormone plasma membrane transport defect,True
13626,"psoriasis 14, pustular",True
10440_10341_10342_10321_10449,"autism, susceptibility to, X-linked",True
9365_13585_6037,hydrolethalus syndrome,True
11203,Pierre Robin sequence with pectus excavatum and rib and scapular anomalies,True
10582,"obsolete diabetes insipidus, neurohypophyseal type, X-linked inheritance",True
11500,Becker nevus syndrome,True
10122_19740,thrombotic thrombocytopenic purpura,True
10821,familial developmental dysphasia,True
9478,combined immunodeficiency due to DOCK8 deficiency,True
31481,"microcephaly, epilepsy, and diabetes syndrome 1",True
9399,"hyperphosphatemia, polyuria, and seizures",True
10734,"spatial visualization, aptitude for",True
60490,"neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies",True
12043,Reis-Bucklers corneal dystrophy,True
9119,"diverticulosis, small-intestinal",True
14232,"craniosynostosis 5, susceptibility to",True
1056,gastric cancer,True
9824_13327_9823_2474,primary hyperoxaluria,True
14824,craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome,True
8298,postaxial tetramelic oligodactyly,True
12143,hereditary cryohydrocytosis with reduced stomatin,True
8108,oculocerebrocutaneous syndrome,True
10569,X-linked complicated corpus callosum dysgenesis,True
9918,"fundus dystrophy, pseudoinflammatory, recessive form",True
7123,ankyloblepharon filiforme adnatum-cleft palate syndrome,True
9998,Richieri Costa-Pereira syndrome,True
13276,Reynolds syndrome,True
8209,Char syndrome,True
100255,adenosine kinase deficiency,True
10239,lissencephaly type 1 due to doublecortin gene mutation,True
8304,premature chromatid separation trait,True
8285,"polyps, multiple and recurrent inflammatory fibroid, gastrointestinal",True
8796,aniridia-renal agenesis-psychomotor retardation syndrome,True
9526,"fibular aplasia, tibial campomelia, and oligosyndactyly syndrome",True
14174_8833_17417,renal-hepatic-pancreatic dysplasia,True
7569,"erythema nodosum, familial",True
14382,tall stature-intellectual disability-facial dysmorphism syndrome,True
7248,hereditary painful callosities,True
9625_20762_33211_17868,diencephalic-mesencephalic junction dysplasia,True
13332,"brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability",True
12897,congenital factor XI deficiency,True
13660,"arthrogryposis, Perthes disease, and upward gaze palsy",True
9647,Morquio syndrome C,True
12172,mitochondrial trifunctional protein deficiency,True
11338,Omenn syndrome,True
24565,ectodermal dysplasia-syndactyly syndrome 1,True
13759,MITF-related melanoma and renal cell carcinoma predisposition syndrome,True
32908,CEBALID syndrome,True
11342,SLC35A1-CDG,True
10298,Lesch-Nyhan syndrome,True
10505,intellectual disability-balding-patella luxation-acromicria syndrome,True
14528,chronic atrial and intestinal dysrhythmia,True
11148,Spondylospinal thoracic dysostosis,True
9514,Laurence-Moon syndrome,True
20495,peho-like syndrome,True
60711,Jaberi-Elahi syndrome,True
14361,autism spectrum disorder due to AUTS2 deficiency,True
9836,"pancreatitis, sclerosing cholangitis, and sicca complex",True
14984,"lung disease, immunodeficiency, and chromosome breakage syndrome;",True
100186,GTP cyclohydrolase I deficiency with hyperphenylalaninemia,True
14495,retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome,True
11919_13303_12027_12028_12263,"autoimmune disease, susceptibility to",True
9798,intellectual disability-cataracts-calcified pinnae-myopathy syndrome,True
9074,facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome,True
9348,classic Hodgkin lymphoma,True
9218,Farber lipogranulomatosis,True
30029,"skeletal dysplasia, mild, with joint laxity and advanced bone age",True
7347,obsolete Coxsackievirus B3 susceptibility,True
7113,Angelman syndrome,True
11165_24527,glomerulopathy with fibronectin deposits,True
16294,Hirschsprung disease-type D brachydactyly syndrome,True
9405,cervical hypertrichosis-peripheral neuropathy syndrome,True
10244,CGF1,False
8232,"phagocytosis, plasma-related defect 1N",True
13129_11193_455,cone dystrophy,True
8912,cardiac septal defects with coarctation of the aorta,True
7421,deafness-ear malformation-facial palsy syndrome,True
9871,pili torti-developmental delay-neurological abnormalities syndrome,True
100213,IFAP syndrome with or without BRESHECK syndrome,True
13722_17333,hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism,True
13044,atypical hemolytic-uremic syndrome with thrombomodulin anomaly,True
7918,"microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability",True
24553_13307_863_10782,"myopathy, lactic acidosis, and sideroblastic anemia",True
12123_54559_8909_26765_14904_11291_26729_30043_15286_18292_18293_5500_5501,congenital disorder of glycosylation,True
11538,frontoocular syndrome,True
20735_14416,ACTH-independent macronodular adrenal hyperplasia,True
32597,"myasthenic syndrome, congenital, 24, presynaptic",True
9195,erythema of acral regions,True
7752,hyperheparinemia,True
14972,"chromosome 19q13.11 deletion syndrome, proximal",True
8862,3-methylcrotonyl-CoA carboxylase 2 deficiency,True
7917,lymphedema-cerebral arteriovenous anomaly syndrome,True
19073,hypotrichosis-lymphedema-telangiectasia-renal defect syndrome,True
12222_12221_17779_19264,alpha-N-acetylgalactosaminidase deficiency,True
12559,primary immunodeficiency syndrome due to p14 deficiency,True
9897,adult polyglucosan body disease,True
12484,"prosopagnosia, hereditary",True
7768,hyperparathyroidism 2 with jaw tumors,True
44701,childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder,True
7111_12194_10468_12053_12443_12752_12810_12811_12949_12950_13654_32891,"aneurysm, intracranial berry",True
9355,Hooft disease,True
10890,acrocardiofacial syndrome,True
8088,"neuropathy, with paraprotein in serum, cerebrospinal fluid and urine",True
9374,hydroxyprolinemia (disease),True
7892,Lenz-Majewski hyperostotic dwarfism,True
7759,"hyperlipidemia, familial combined, LPL related",True
7079_2491_4938_2046_5367_5689_4456_5186,substance abuse/dependence,True
7984,metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome,True
8853,Barber-Say syndrome,True
9344,Hirschsprung disease-nail hypoplasia-dysmorphism syndrome,True
11996,"chronic myelogenous leukemia, BCR-ABL1 positive",True
13954,mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency,True
9542,lysine malabsorption syndrome,True
10645,oculocerebrorenal syndrome,True
7541,"endometriosis, susceptibility to, 1",True
10523,X-linked reticulate pigmentary disorder,True
14270,STT3A-CDG,False
12350,complement factor H deficiency,True
10065,spinocerebellar degeneration with slow eye movements,True
10922,Satoyoshi syndrome,True
7168_7167_9727_389,atelosteogenesis,True
8165,southeast Asian ovalocytosis,True
8717,"acromesomelic dysplasia, Hunter-Thompson type",True
8225,normokalemic periodic paralysis,True
11823,developmental malformations-deafness-dystonia syndrome,True
7909_8792,familial angiolipomatosis,True
13531,PSPH deficiency,True
15270,butyrylcholinesterase deficiency,True
7536,congenital lobar emphysema,True
8500,"striae distensae, familial",True
9367,McKusick-Kaufman syndrome,True
10611,X-linked hydrocephalus with stenosis of the aqueduct of Sylvius,True
7603,Felty syndrome,True
10539,X-linked mandibulofacial dysostosis,True
10802,pancreatic hypoplasia-diabetes-congenital heart disease syndrome,True
14352_32837_816,abdominal obesity-metabolic syndrome,True
14406_24547_9832,pancreatic agenesis,True
9335,"hemolytic uremic syndrome, atypical, susceptibility to, 1",True
32790,neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities,True
7687,"graying of hair, precocious",True
8391,Robinow-Sorauf syndrome,True
8827,progressive pseudorheumatoid arthropathy of childhood,True
54780_12731_7533,elliptocytosis,True
11175_100340_100339,friedreich ataxia,True
9047,cryptorchidism (disease),True
10467,Xq27.3q28 duplication syndrome,True
7243,Burkitt lymphoma,True
7719,"diaphragmatic hernia, congenital 1",True
24508_13230,"epilepsy, hot water",True
11211,axial spondylometaphyseal dysplasia,True
7250,camptodactyly of fingers,True
7426,"deafness, unilateral",True
7769,hyperpigmentation of eyelid,True
32572,"cardiac, facial, and digital anomalies with developmental delay",True
7700,hawkinsinuria,True
8198,parietal foramina with cleidocranial dysplasia,True
10607,"heterotaxy, visceral, 1, X-linked",True
8289,brain small vessel disease 1 with or without ocular anomalies,True
8484,stapes ankylosis with broad thumbs and toes,True
7271,familial cutaneous collagenoma,True
10600,"granulomatous disease, chronic, X-linked",True
9466,neuronal intestinal pseudoobstruction,True
10991,"laterality defects, autosomal dominant",True
32927,triokinase and FMN cyclase deficiency syndrome,True
9830,parkinsonian-pyramidal syndrome,True
13144,antithrombin III deficiency,True
11009,"muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers",True
13784,lethal neonatal spasticity-epileptic encephalopathy syndrome,True
8157,Buschke-Ollendorff syndrome,True
10310,osteopathia striata with cranial sclerosis,True
14180,epidermolysis bullosa simplex due to BP230 deficiency,True
7800,chromosome 18p deletion syndrome,True
9045,cataract-nephropathy-encephalopathy syndrome,True
9674,"muscular dystrophy, adult-onset, with leukoencephalopathy",True
14483,retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies,True
11303_14451_14539_14462_11390_13589_13191_5363,focal segmental glomerulosclerosis,True
13957,mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency,True
7944,Treacher-Collins syndrome 1,True
11089,patent ductus venosus,True
11221,Weyers ulnar ray/oligodactyly syndrome,True
9605,methemoglobinemia type 4,True
10756,"Von Willebrand disease, X-linked form",True
8728,classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency,True
14387,"leukoencephalopathy, progressive, with ovarian failure",True
44696,early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome,True
10086,obsolete sudden infant death syndrome,True
9462,"inosine phosphorylase deficiency, immune defect due to",True
12854,bilateral microtia-deafness-cleft palate syndrome,True
30894,"AMED syndrome, digenic",True
11640,genitopatellar syndrome,True
8534,generalized essential telangiectasia,True
8894,cataract-hypertrichosis-intellectual disability syndrome,True
11548,"cerebral palsy, ataxic, autosomal recessive",True
20772,"epilepsy, juvenile absence, susceptibility to, 1",True
9382,"hyperbilirubinemia, shunt, primary",True
9437,Bamforth-Lazarus syndrome,True
11086,"severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive",True
20835,"methemoglobinemia, alpha type",True
7688,Myhre syndrome,True
11269,psoriasis 2,True
8281,"polyposis, intestinal, scattered and discrete",True
12980,endocrine-cerebro-osteodysplasia syndrome,True
9584,"intellectual disability, Buenos-Aires type",True
9121,von Voss-Cherstvoy syndrome,True
10217,de Sanctis-Cacchione syndrome,True
8176_11656_14792,Paget disease of bone,True
9020,macular corneal dystrophy,True
9912,prolactin deficiency with obesity and enlarged testes,True
9589,mesomelic dwarfism-cleft palate-camptodactyly syndrome,True
11217,desmosterolosis,True
12145,"macular degeneration, age-related, 3",True
7712,oculoauriculovertebral spectrum with radial defects,True
14383_24531,"myopathy, tubular aggregate",True
14403,short stature due to GHSR deficiency,True
8783,Tangier disease,True
7322,"chondrodysplasia punctata, tibial-metacarpal type",True
8763,Alstrom syndrome,True
11686,DNA ligase IV deficiency,True
8525_20509_20508_17987_18257_20510,syringomyelia,True
14425,hereditary persistence of alpha-fetoprotein,True
32792,"neuropathy, hereditary motor and sensory, type VIc, with optic atrophy",True
11166,lymphedema-atrial septal defects-facial changes syndrome,True
12590,XFE progeroid syndrome,True
8829,chylous ascites,True
11654,"intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism",True
10524_20721,X-linked sideroblastic anemia,True
9778,"olivopontocerebellar atrophy II, autosomal recessive",True
32905_32737_33614_32906,spastic paraplegia,True
19531,hemolytic anemia due to glutathione reductase deficiency,True
7537,lateral meningocele syndrome,True
20858_32869,mitochondrial complex 5 (ATP synthase) deficiency nuclear,True
60664,"neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities",True
9328,"hemangiomatosis, cutaneous, with associated features",True
14835_211,"striatal degeneration, autosomal dominant",True
12475,cone dystrophy with supernormal rod response,True
7962,Megalodactyly,True
9822,otoonychoperoneal syndrome,True
20786_20784,"obsolete short sleep, familial natural",True
9488,keratoconus posticus circumscriptus,True
11362,hereditary proximal myopathy with early respiratory failure,True
8706,Ackerman syndrome,True
12335,obesity due to pro-opiomelanocortin deficiency,True
7191,Behcet disease,True
9732,"congenital nephrotic syndrome, Finnish type",True
32890,neuromuscular disease and ocular or auditory anomalies with or without seizures,True
9820,osteoporosis-pseudoglioma syndrome,True
10498,MEND syndrome,True
7402,"creatine phosphokinase, elevated serum",True
10253,"migraine, familial typical, susceptibility to, 2",True
10496,X-linked intellectual disability-short stature-overweight syndrome,True
7856,palmoplantar keratoderma-esophageal carcinoma syndrome,True
60713,"deafness, congenital heart defects, and posterior embryotoxon",True
8016,trismus-pseudocamptodactyly syndrome,True
10141,tiglic acidemia,True
9916,"46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency",True
14118,congenital neutropenia-myelofibrosis-nephromegaly syndrome,True
10579,X-linked corneal dermoid,True
9350,Holzgreve-Wagner-Rehder syndrome,True
14689,Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome,True
10581,"diabetes insipidus, nephrogenic, X-linked",True
9908,dehydratase deficiency,True
13042,atypical hemolytic-uremic syndrome with B factor anomaly,True
8399_12888_12889,"sarcoidosis, susceptibility to",True
9104,Donnai-Barrow syndrome,True
12393,congenital brain dysgenesis due to glutamine synthetase deficiency,True
7038,Achoo syndrome,True
10718,absent radius-anogenital anomalies syndrome,True
10139,isolated thyroid-stimulating hormone deficiency,True
8158,dacryocystitis-osteopoikilosis syndrome,True
8290,"porokeratosis 1, Mibelli type",True
11518,Wiedemann-Steiner syndrome,True
10563,blue cone monochromacy,True
8734,"adrenocortical carcinoma, hereditary",True
33543_12490,"cone-rod synaptic disorder, congenital nonprogressive",True
32658,"macrocephaly, acquired, with impaired intellectual development",True
7669,renal cysts and diabetes syndrome,True
10573,"cutis verticis gyrata, thyroid aplasia, and intellectual disability",True
9765,ocular myopathy with curare sensitivity,True
10722,X-linked retinal dysplasia,True
13270,"Rett syndrome, congenital variant",True
10592,focal dermal hypoplasia,True
9714,myosclerosis,True
13692,BAP1-related tumor predisposition syndrome,True
10535,Bazex-Dupre-Christol syndrome,True
8242,"photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction",True
10158,T-substance anomaly,True
12405_42486,"polyposis syndrome, hereditary mixed",True
13483,"obesity, hyperphagia, and developmental delay",True
13870,TMEM165-CDG,True
8849,atrophoderma vermiculata,True
12757,"lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome",True
13955,mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency,True
7870,"labia minora, incomplete adhesion of",True
11469,congenital amegakaryocytic thrombocytopenia,True
7898,"leukocyte nuclear appendages, hereditary prevalence of",True
12297,SPOAN syndrome,True
8337,familial pterygium of the conjunctiva,True
9083,conductive deafness-malformed external ear syndrome,True
13166,GABA aminotransferase deficiency,True
9041,craniosynostosis-intellectual disability-clefting syndrome,True
12356,glomerulocystic kidney disease with hyperuricemia and isosthenuria,True
9837_2684,choroid plexus papilloma,True
12549,"autosomal recessive ataxia, Beauce type",True
8069,"necrotizing encephalomyelopathy, subacute, of Leigh, adult",True
8115_13691_15267,Feingold syndrome,True
9697,Lafora disease,True
15019,susceptibility to Yao syndrome,True
9094,dermochondrocorneal dystrophy,True
7226,brachydactyly-nystagmus-cerebellar ataxia syndrome,True
8753,alkaptonuria,True
20775_20777_60720,congenital disorder of glycosylation with defective fucosylation,True
11042,Martinez-Frias syndrome,True
13417,complement component 3 deficiency,True
7866,Bart-Pumphrey syndrome,True
8644,velocardiofacial syndrome,True
9944,pyloric atresia,True
14793,microcephaly-congenital cataract-psoriasiform dermatitis syndrome,True
14562,neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome,True
11746,"symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch",True
11064_15424,lethal chondrodysplasia,True
7660,familial ossifying fibroma,True
30005,"epilepsy, early-onset, with or without developmental delay",True
33641,"cleft palate, proliferative retinopathy, and developmental delay",True
9297,familial renal glucosuria,True
8993,cleft palate-stapes fixation-oligodontia syndrome,True
9784,ophthalmoplegic neuromuscular disorder with abnormal mitochondria,True
20754,visceral myopathy,True
7140,antiphospholipid syndrome,True
8253,"platelet aggregation, spontaneous",True
9722,Bailey-Bloch congenital myopathy,True
10638,keratosis follicularis-dwarfism-cerebral atrophy syndrome,True
9838,Parana hard-skin syndrome,True
10281,Danon disease,True
10849,"palmoplantar keratoderma, Bothnian type",True
8387,ring dermoid of cornea,True
9519,letterer-Siwe disease,True
10971,infundibulopelvic stenosis-multicystic kidney syndrome,True
10767_10763,"spermatogenic failure, Y-linked",True
8737_18060,congenital fibrinogen deficiency,True
13789,DDOST-CDG,False
10594,inherited genitourinary tract anomalies (disease),True
12504,camptodactyly-tall stature-scoliosis-hearing loss syndrome,True
7115,"angioma serpiginosum, autosomal dominant",True
9345_4738,histidine metabolism disease,True
8910,carboxypeptidase N deficiency,True
8585,HELLP syndrome,True
8041,"myoclonic epilepsy, Hartung type",True
9172,enterocolitis (disease),True
9110,dicarboxylic aminoaciduria,True
9356,autosomal recessive humeroradial synostosis,True
10727,"Russell-silver syndrome, X-linked",True
10381,Tn polyagglutination syndrome,True
9384_19155,Leydig cell hypoplasia,True
14563,mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency,True
10642,Lesch-Nyhan phenotype with normal HGPRT,True
10315,T-B+ severe combined immunodeficiency due to gamma chain deficiency,True
12308,Joubert syndrome with renal defect,True
12099,AICA-ribosiduria,True
9068,cytochrome-c oxidase deficiency disease,True
20841,neurodevelopmental disorder with cerebellar atrophy and with or without seizures,True
9048,curved nail of fourth toe,True
8808,aplasia cutis congenita-intestinal lymphangiectasia syndrome,True
12374,"brachyphalangy, polydactyly, and tibial aplasia/hypoplasia",True
13005,EAST syndrome,True
33642,neurodevelopmental disorder with alopecia and brain abnormalities,True
8557,Paris-Trousseau thrombocytopenia,True
7888,hereditary leiomyomatosis and renal cell cancer,True
11973,"zinc deficiency, transient neonatal",True
10613,inborn glycerol kinase deficiency,True
9315,congenital factor XII deficiency,True
12249_13699_13725_13695_13710_13196,"colorectal cancer, hereditary nonpolyposis,",True
10258,MEHMO syndrome,True
9296,glycoprotein storage disease,True
10389_17905,X-linked mendelian susceptibility to mycobacterial diseases,True
13055,"Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features",True
7941,malocclusion due to protuberant upper front teeth,True
10887,isolated anterior cervical hypertrichosis,True
12541,"deafness with labyrinthine aplasia, microtia, and microdontia",True
32753,"spastic ataxia 9, autosomal recessive",True
9370_16001,2/L-2-hydroxyglutaric aciduria,True
9423,"hypokalemic alkalosis, familial, with specific renal tubulopathy",True
21018,autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6),True
11010,Matthew-Wood syndrome,True
12512,fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3,True
9455,"immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes",True
9886,pleoconial myopathy with salt craving,True
10673,"modifier, X-linked, for Neurofunctional defects",True
7041,apert syndrome,True
9338,hepatic veno-occlusive disease-immunodeficiency syndrome,True
14456,autosomal recessive severe congenital neutropenia due to JAGN1 deficiency,True
10644,"proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis",True
12468_12182,"skeletal dysplasia, rhizomelic, with retinitis pigmentosa",True
12524,corticosterone methyloxidase type 2 deficiency,True
13164,beta-ureidopropionase deficiency,True
10107,testicular regression syndrome,True
11728,blepharospasm,True
12720,"Krabbe disease, atypical, due to saposin A deficiency",True
10667,Prieto syndrome,True
32836,weiss-kruszka syndrome,True
7606,fibrodysplasia ossificans progressiva,True
44304,hyperphenylalaninemia due to DNAJC12 deficiency,True
9821,lethal osteosclerotic bone dysplasia,True
10958,"cardiac arrhythmia, ankyrin-B-related",True
12648,isobutyryl-CoA dehydrogenase deficiency,True
14472,periodic fever-infantile enterocolitis-autoinflammatory syndrome,True
7205,diaphyseal medullary stenosis-bone malignancy syndrome,True
9948,"pyropoikilocytosis, hereditary",True
10001_19287_23046_23048,ectodermal dysplasia syndrome,True
9231,fibular hypoplasia and complex brachydactyly,True
14606,intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome,True
12097_13366_14694_12349_20692,autosomal recessive spondylocostal dysostosis,True
18690,Holmes-Adie syndrome,True
7073,hypoglossia-hypodactyly syndrome,True
7407,Cryoglobulinemic vasculitis,True
7458,"digitotalar dysmorphism; ulnar drift, hereditary",True
7332_12537,split-hand/foot malformation with long bone deficiency,True
34022_24530_8029,Bethlem myopathy,True
14031_9616_17950,microcephalic primordial dwarfism,True
10543,Barth syndrome,True
10011,schizencephaly,True
10260,"arthrogryposis, congenital, lower limb, X-linked",True
9077,"deafness, congenital, and familial myoclonic epilepsy",True
11624,transaldolase deficiency,True
7773,hyperproglucagonemia,True
8222,Andersen-Tawil syndrome,True
11271,rigid spine muscular dystrophy 1,True
10612,hydrocephaly-cerebellar agenesis syndrome,True
10532,infantile-onset X-linked spinal muscular atrophy,True
12295,complement component 5 deficiency,True
9931,pulmonary atresia-intact ventricular septum syndrome,True
13408,FADD-related immunodeficiency,True
13331,"factor 5 and Factor VIII, combined deficiency of, 2",True
32818,neurodevelopmental disorder with cerebellar hypoplasia and spasticity,True
8755,Moynahan syndrome,True
11378,obsolete CFM1,True
7214,brachydactyly-preaxial hallux varus syndrome,True
9115,congenital lactase deficiency,True
11945,Gaucher disease perinatal lethal,True
13396,chromosome 1p32-p31 deletion syndrome,True
12190,nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome,True
54602_20790,"gaze palsy, familial horizontal, with progressive scoliosis",True
11132,"T-cell immunodeficiency, congenital alopecia, and nail dystrophy",True
13517,beta-thalassemia HBB/LCRB,True
8761,obsolete alpha-2-deficient collagen disease,True
8810,familial apolipoprotein C-II deficiency,True
11751,"COPD, severe early onset",True
14314,sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome,True
11147,chromosome 18q deletion syndrome,True
8128,"ophthalmoplegia, familial static",True
8316,"thrombophilia due to protein C deficiency, autosomal dominant",True
9704,"carnitine palmitoyl transferase II deficiency, myopathic form",True
56822_21170,amyotonia congenita,True
10605,hemopoietic proliferation,True
20671,obsolete susceptibility to ischemic stroke,True
11517,pseudohyperaldosteronism type 2,True
13735,microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome,True
9919,peroxisomal acyl-CoA oxidase deficiency,True
8227,peripheral dysostosis,True
10606,"hernia, anterior diaphragmatic",True
8244,piebaldism,False
8799,anophthalmia/microphthalmia-esophageal atresia syndrome,True
7185,Banki syndrome,True
14096,microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome,True
20781_14960,"encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy",True
21035_13492_12487_30009,alopecia-intellectual disability syndrome,True
11263,"skeletal dysplasia and progressive central nervous system degeneration, lethal",True
10851,Lowry-MacLean syndrome,True
7695,hairy palms and soles,True
11053,intellectual disability-sparse hair-brachydactyly syndrome,True
7233_15376_15377_15378,branchial cleft anomaly,True
11444,Duane retraction syndrome 2,True
9371,3-hydroxyisobutyric aciduria,True
12001,"mandibulofacial dysostosis with ptosis, autosomal dominant",True
14094,severe congenital hypochromic anemia with ringed sideroblasts,True
7964,dysplastic nevus syndrome,True
20742,"obsolete cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome",True
12916,chromosome 2p16.1-p15 deletion syndrome,True
14723,PMP22-RAI1 contiguous gene duplication syndrome,True
8258,platelet signal processing defect,True
9551,"magnesium, elevated red cell",True
9995,obsolete rheumatic fever-related antigen,True
10961,obesity due to prohormone convertase I deficiency,True
7643,"gamma-A-globulin, defect in assembly of",True
8624,Upington disease,True
9208,faciothoracogenital syndrome,True
7505,"earring holes, natural",True
8715,acrofrontofacionasal dysostosis,True
14741,facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation,True
32851,intellectual developmental disorder with impaired language and dysmorphic facies,True
14179_14178,inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia,True
10789,MELAS syndrome,True
10365,"myopathy, congenital, with fiber-type disproportion, X-linked",True
8118,odontomatosis-aortae esophagus stenosis syndrome,True
14312_11234_13845_107,auriculocondylar syndrome,True
11215,osteocraniostenosis,True
32838,"neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies",True
8365,recombinant 8 syndrome,True
14825,"chromosome 11p13 deletion syndrome, distal",True
14044,dysmorphism-conductive hearing loss-heart defect syndrome,True
32862,"hydrocephalus, congenital communicating, 1",True
9910,Wiedemann-Rautenstrauch syndrome,True
9698,Unverricht-Lundborg syndrome,True
7583,exostoses of heel,True
24466_11407_13880,"facial paresis, hereditary congenital",True
11402,congenital cataracts-facial dysmorphism-neuropathy syndrome,True
13539,hypotonia-failure to thrive-microcephaly syndrome,True
12700,"renal tubular acidosis, distal, 4, with hemolytic anemia",True
13563_10466_14165_100247,multiple congenital anomalies-hypotonia-seizures syndrome,True
7810,autosomal dominant ichthyosis vulgaris,True
11273,H syndrome,False
10140,isolated thyrotropin-releasing hormone deficiency,True
7253,"cancer, familial, with in vitro Radioresistance",True
8705,lysosomal acid phosphatase deficiency,True
8071,autosomal dominant progressive nephropathy with hypertension,True
14210,intellectual disability-hypotonia-spasticity-sleep disorder syndrome,True
9607,methionine adenosyltransferase deficiency,True
11239,colobomatous macrophthalmia-microcornea syndrome,True
8183,annular pancreas,True
11508,"lymphoma, non-Hodgkin, familial",True
7827,inclusion body myositis,True
8599,trigeminal neuralgia,True
9042,craniotelencephalic dysplasia,True
32943,neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies,True
9243,Fraser-like syndrome,True
7840,"internal carotid artery, spontaneous dissection of",True
9117,"obsolete disorganization, mouse, homolog of",True
11081,dislocation of the hip-dysmorphism syndrome,True
7120,aniridia-absent patella syndrome,True
8336,"pterygium colli, isolated",True
7620,fish eye disease,True
8015,motion sickness,True
54581_54582_7142,Townes-Brocks syndrome,True
10675,"muscular dystrophy, cardiac type",True
10769,"hairy ears, Y-linked",True
8262,Poland syndrome,True
7445,dermatopathia pigmentosa reticularis,True
12110,growth delay due to insulin-like growth factor type 1 deficiency,True
24557,ataxia-telangiectasia-like disorder 1,True
14109,NGLY1-deficiency,True
10561,Coffin-Lowry syndrome,True
9088,"deafness, neural, with atypical atopic dermatitis",True
8593,trichomegaly,True
12382_11153_9734,"hyperinsulinemic hypoglycemia, familial",True
8850,Cooper-Jabs syndrome,True
9695,"myeloproliferative disease, autosomal recessive",True
14746,SLC39A8-CDG,True
12280,Goldberg-Shprintzen megacolon syndrome,True
12347,"hamartoma, Precalcaneal congenital fibrolipomatous",True
9748_15354,hereditary sensory and autonomic neuropathy,True
9447,"ichthyosis, split hairs, and amino aciduria",True
9316,hair defect-photosensitivity-intellectual disability syndrome,True
12830,chromosome 10q23 deletion syndrome,True
9199,ethanolaminosis,True
11688_12138_171_18276_172_173,muscular dystrophy-dystroglycanopathy,True
11776,CINCA syndrome,True
8925,cataract 46 juvenile-onset,True
12991,Kahrizi syndrome,True
8661,vitiligo,False
8857,Beemer-Ertbruggen syndrome,True
7469,double nail for fifth toe,True
10713,"properdin deficiency, X-linked",True
7618,Eng-Strom syndrome,True
7147,obstructive sleep apnea syndrome,True
13755,PYCR1-related de Barsy syndrome,True
9638,mitochondrial myopathy with a defect in mitochondrial-protein transport,True
9693,plasma cell myeloma,True
14375_13184,congenital diarrhea with enteropathy,True
13779,Wiskott-Aldrich syndrome 2,True
10867,PARC syndrome,True
8407,"neurogenic scapuloperoneal syndrome, Kaeser type",True
8259,familial spontaneous pneumothorax,True
13073,"palmoplantar keratoderma, nonepidermolytic, focal 1",True
10557,choroideremia,True
32607,vertebral anomalies and variable endocrine and T-cell dysfunction,True
8411,ulnar-mammary syndrome,True
14520,"46,XX ovarian dysgenesis-short stature syndrome",True
9177,late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome,True
10069,spondylocostal dysostosis-anal and genitourinary malformations syndrome,True
60578,"neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures",True
14431,LIPE-related familial partial lipodystrophy,True
13512,hemoglobin H disease,True
8675,freeman-Sheldon syndrome,True
9303,anti-glomerular basement membrane disease,True
14823,TBCK-related intellectual disability syndrome,True
13074,encephalocraniocutaneous lipomatosis,True
13088,"follicular lymphoma, susceptibility to, 1",True
24521_7031_12343_12751_13716,familial abdominal aortic aneurysm,True
12233_7903_18875,Li-Fraumeni syndrome,True
9037,craniosynostosis with anomalies of the cranial base and digits,True
9845,pelviscapular dysplasia,True
9764,"ocular motor apraxia, Cogan type",True
7052,growth hormone secreting pituitary adenoma 1,True
8027,"muscular atrophy, malignant neurogenic",True
11184,childhood apraxia of speech,True
8743,Stimmler syndrome,True
9747,Navajo neurohepatopathy,True
9016,band keratopathy,True
8214,Pelger-Huet anomaly,True
7340,cleidocranial dysplasia,True
9782,ophthalmoplegia totalis with ptosis and miosis,True
8678,Williams syndrome,True
22113,central centrifugal cicatricial alopecia,True
8314,"pronation-supination of the forearm, impairment of",True
10641,X-linked diffuse leiomyomatosis-Alport syndrome,True
7706,cavernous hemangiomas of face-supraumbilical midline raphe syndrome,True
14069,syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome,True
9300_13588_14126_14504_33047_13972_17312,Perrault syndrome,True
33551,immunodeficiency 72 with autoinflammation,True
8333,"pseudoxanthoma elasticum, forme fruste",True
32930,intellectual developmental disorder with poor growth and with or without seizures or ataxia,True
10290_11635,"goiter, multinodular",True
7599,"factor 9 and Factor XI, combined deficiency of",True
11199,"nephropathy, progressive tubulointerstitial, with cholestatic liver disease",True
9251,"fructose-1,6-bisphosphatase deficiency",True
44205_44204_9833,Shwachman-Diamond syndrome,True
30921,"intellectual disability, autosomal dominant 55, with seizures",True
7343,isolated congenital digital clubbing,True
10034,anosmia for butyl mercaptan,True
11652,Phelan-McDermid syndrome,True
10082,subaortic stenosis-short stature syndrome,True
8428,septooptic dysplasia,True
60629,"neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive",True
9163,"encephalomalacia, multilocular",True
32857,"diarrhea 11, malabsorptive, congenital",True
9393,ornithine translocase deficiency,True
12286,"myopathy, autophagic vacuolar, infantile-onset",True
13791,"thrombophilia due to protein S deficiency, autosomal recessive",True
14082,cryptosporidiosis-chronic cholangitis-liver disease syndrome,True
13858,pontine tegmental cap dysplasia,True
13580,pyruvate dehydrogenase E1-beta deficiency,True
7720,"hernia, double inguinal",True
9224,fetal iodine syndrome,True
7396,"dysostosis, Stanescu type",True
9906,prenatal bowing,True
8031_8030_1347,facioscapulohumeral muscular dystrophy,True
10714_17221_17223_17222_17226,Pelizaeus-Merzbacher disease,True
10010,Schinzel-Giedion syndrome,True
8826,"arthrogryposis-hyperkeratosis syndrome, lethal form",True
60592,Sweeney-Cox syndrome,True
10123,absent thumb-short stature-immunodeficiency syndrome,True
13576,recurrent infections associated with rare immunoglobulin isotypes deficiency,True
7997,microspherophakia with hernia,True
12783,RFT1-CDG,False
10839,autosomal dominant congenital benign spinal muscular atrophy,True
12948,chromosome 6pter-p24 deletion syndrome,True
10353,"deafness-intellectual disability, Martin-Probst type syndrome",True
10165,ulna hypoplasia-intellectual disability syndrome,True
13487,recurrent Neisseria infections due to factor D deficiency,True
13208,cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome,True
9499,Krabbe disease,True
11497,hereditary North American Indian childhood cirrhosis,True
32764,Khan-Khan-Katsanis syndrome,True
9898,"polysaccharide, storage of unusual",True
14809,DDX41-related hematologic malignancy predisposition syndrome,True
7665_20367_1094,open angle glaucoma,True
13584,hereditary sensory neuropathy-deafness-dementia syndrome,True
7330,congenital pseudoarthrosis of clavicle,True
9212,congenital factor X deficiency,True
10174,Valinemia,False
11060,early-onset non-syndromic cataract,True
8229,"peroneal nerve, accessory deep",True
30051,"intellectual developmental disorder with autistic features and language delay, with or without seizures",True
12407,pyridoxal phosphate-responsive seizures,True
12456,congenital primary aphakia,True
60763,"intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities",True
8929,cataract-intellectual disability-hypogonadism syndrome,True
9498,lethal Kniest-like dysplasia,True
7050,"acromegaloid changes, cutis verticis gyrata, and corneal leukoma",True
16381,hypertrichosis lanuginosa congenita,True
7435,dentatorubral-pallidoluysian atrophy,True
8811,XK aprosencephaly,True
8927,colobomatous optic disc-macular atrophy-chorioretinopathy syndrome,True
30045,Liberfarb syndrome,True
8731,familial adrenal hypoplasia with absent pituitary luteinizing hormone,True
10308,"thrombocytopenia, X-linked, with or without dyserythropoietic anemia",True
14761,hereditary pediatric Behçet-like disease,True
9255,galactokinase deficiency,True
7842_20066_20521_20522,Ehlers-Danlos syndrome,True
14235,chromosome 22q13 duplication syndrome,True
7408,"cryptotia, familial",True
10725,X-linked retinoschisis,True
9033,temtamy syndrome,True
7229,Brachymetatarsus 4,True
10788,Leber hereditary optic neuropathy,True
20792,dwarfism with tall vertebrae,True
11783,ALG12-CDG,False
33667,Delpire-McNeill syndrome,True
12608,autosomal recessive lower motor neuron disease with childhood onset,True
7902,"lichen planus, familial",True
13578,DYRK1A-related intellectual disability syndrome,True
11998,autosomal dominant slowed nerve conduction velocity,True
7854,keratolytic winter erythema,True
13690,Pitt-Hopkins-like syndrome 2,True
14778,Lamb-Shaffer syndrome,True
7372,"cornea plana 1, autosomal dominant",True
10457,Ogden syndrome,True
10333,corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome,True
9234,congenital high-molecular-weight kininogen deficiency,True
7855,"keratosis, familial actinic",True
13363,chromosome 2q31.1 duplication syndrome,True
60582,auditory neuropathy-optic atrophy syndrome,True
7208,Boomerang dysplasia,True
7694,hairy nose tip,True
12391,neuronal ceroid lipofuscinosis 8 northern epilepsy variant,True
9306,combined immunodeficiency with skin granulomas,True
11897,leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome,True
11744,primary intraosseous venous malformation,True
44714,mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome,True
10197,"whistling face syndrome, recessive form",True
8101,familial supernumerary nipples,True
9856,Peters plus syndrome,True
13998,MEGF8-related Carpenter syndrome,True
9228,gingival fibromatosis-facial dysmorphism syndrome,True
8388,ringed hair disease,True
8911,"cardiac lipidosis, familial",True
12805,childhood onset GLUT1 deficiency syndrome 2,True
9907,Prepapillary vascular loops,True
26727,Shukla-Vernon syndrome,True
13467,immunodeficiency due to ficolin3 deficiency,True
7797,hypoparathyroidism-deafness-renal disease syndrome,True
10154,trigonocephaly-bifid nose-acral anomalies syndrome,True
32882,Heyn-Sproul-Jackson syndrome,True
9480,Joubert syndrome with oculorenal defect,True
11431,MASS syndrome,True
9282,multiple acyl-CoA dehydrogenase deficiency,True
4948_872_4963_20511_4947_814,acute lymphoblastic/lymphocytic leukemia,True
14334,severe combined immunodeficiency due to LCK deficiency,True
9018,central cloudy dystrophy of François,True
8139,OSLAM syndrome,True
13421,type II complement component 8 deficiency,True
7608,desmoid tumor,True
54738_54737_54739_9046,Fraser syndrome,True
8345,idiopathic pulmonary fibrosis,True
14515,macular dystrophy with central cone involvement,True
32833,"lower urinary tract obstruction, congenital",True
18544_10247,X-linked adrenoleukodystrophy,True
8841,ataxia-telangiectasia with generalized skin pigmentation and early death,True
10144_17490_17491,tibial hemimelia,True
14534,lissencephaly 6 with microcephaly,True
8040,transient myeloproliferative syndrome (disease),True
10311,Becker muscular dystrophy,True
7238,amastia,False
12773,Hunter-Macdonald syndrome,True
13678,EDICT syndrome,True
11664,immunodeficiency due to CD25 deficiency,True
12137,Carney complex - trismus - pseudocamptodactyly syndrome,True
9438,"hypouricemia, hypercalcinuria, and decreased bone density",True
9149,ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome,True
9070,D-glyceric aciduria,True
8691,"zinc, elevated plasma",True
11379_20726,medullary cystic kidney disease,True
10668,skeletal dysplasia-intellectual disability syndrome,True
32821,"myopathy, congenital, progressive, with scoliosis",True
14247,familial episodic pain syndrome with predominantly lower limb involvement,True
8760,beta-ketothiolase deficiency,True
14221,triosephosphate isomerase deficiency,True
10932,progressive bifocal chorioretinal atrophy,True
7227,Sillence syndrome,True
9357,humeroradial synostosis with craniofacial anomalies,True
10633,iris hypoplasia with glaucoma,True
10568,Aicardi syndrome,True
14157,mandibular hypoplasia-deafness-progeroid syndrome,True
10753,"cardiac valvular dysplasia, X-linked",True
7085,alopecia-epilepsy-pyorrhea-intellectual disability syndrome,True
7653_19411_19680,genochondromatosis,True
9270,genito-palato-cardiac syndrome,True
13268,frontonasal dysplasia with alopecia and genital anomaly,True
7812,"ichthyosis, lamellar, autosomal dominant",True
7404,Cri-du-chat syndrome,True
7071,"adrenocortical hypofunction, chronic primary congenital",True
8247,robin sequence-oligodactyly syndrome,True
7438,dentin dysplasia-sclerotic bones syndrome,True
10914,"carnitine palmitoyl transferase II deficiency, severe infantile form",True
9623,Nijmegen breakage syndrome,True
8981,infantile choroidocerebral calcification syndrome,True
11717,hyperinsulinism-hyperammonemia syndrome,True
54695,"myopathy, centronuclear, 6, with fiber-type disproportion",True
10553,"Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined",True
11019,alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome,True
12740,"chromosome 22q11.2 deletion syndrome, distal",True
14919,sessile serrated polyposis cancer syndrome,True
8340,congenital ptosis (disease),True
13282,alpha 1-antitrypsin deficiency,True
7663,glaucoma with elevated episcleral venous pressure,True
7864,angioosteohypertrophic syndrome,True
13995_7829,"cholestasis, intrahepatic, of pregnancy",True
10198,Wernicke-Korsakoff syndrome,True
7529,elastosis perforans serpiginosa,True
10305,creatine transporter deficiency,True
12020,chromosome 22q11.2 microduplication syndrome,True
10711,tarp syndrome,True
7130_17705_20295_20453,congenital pulmonary venous return anomaly,True
7159,arthrogryposis-like hand anomaly-sensorineural deafness syndrome,True
44738,Gabriele de Vries syndrome,True
7239,epidermolytic hyperkeratosis,True
12772,Stevenson-Carey syndrome,True
6292,malignant mesothelioma (disease),True
9854,"peroneus tertius muscle, absence of",True
44634,retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome,True
11898_14906,"Charcot-Marie-Tooth disease, axonal, autosomal recessive",True
8989,citrulline transport defect,True
10385,X-linked lymphoproliferative disease due to XIAP deficiency,True
8359,radio-renal syndrome,True
9375,"hymen, imperforate",True
7952,maxillofacial dysostosis,True
21019,X-linked recessive ocular albinism,True
8291,porokeratosis plantaris palmaris et disseminata,True
11213,Pierpont syndrome,True
7787,Ambras type hypertrichosis universalis congenita,True
7524,"autosomal dominant Ehlers-Danlos syndrome, vascular type",True
8089,"neutropenia, chronic familial",True
9075,Dandy-Walker malformation-postaxial polydactyly syndrome,True
8638,varicose disease,True
31446_100327_31003,"hypercholanemia, familial",True
14399,PCNA-related progressive neurodegenerative photosensitivy syndrome,True
10751,unique green phenomenon,True
20602_10265_10731,Simpson-Golabi-Behmel syndrome,True
7889,lentigines,False
8545,"thalassemia, beta+, silent allele",True
14490,ketoacidosis due to monocarboxylate transporter-1 deficiency,True
12004_15075_5034_5075_24622_6467,thyroid gland carcinoma,True
10019,secretory component deficiency,True
12272,"intellectual disability, keratoconus, febrile seizures, and sinoatrial block",True
26777,VEXAS syndrome,True
10778,cyclic vomiting syndrome,True
32900,neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements,True
14905,Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome,True
8487,polycystic ovary syndrome,True
13621,LAMB2-related infantile-onset nephrotic syndrome,True
11798,"hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration",True
9449,ciliary dyskinesia with defective radial spokes,True
8342,pubic bone dysplasia,True
7934,benign concentric annular macular dystrophy,True
13041,atypical hemolytic-uremic syndrome with I factor anomaly,True
9754,"neutropenia, lethal congenital, with eosinophilia",True
12373,"ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features",True
7461,short stature-valvular heart disease-characteristic facies syndrome,True
32738,"gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy",True
9001,macular coloboma-cleft palate-hallux valgus syndrome,True
14493,autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency,True
9167,Bonnemann-Meinecke-Reich syndrome,True
14450,"breasts and/or nipples, aplasia or hypoplasia of, 2",True
11155,vacuolar Neuromyopathy,True
10079_17831_17830,Canavan disease,True
9572,autosomal recessive familial Mediterranean fever,True
14715,primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection,True
11766,"46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome",True
9275,neonatal hemochromatosis,True
14523,juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome,True
13497,Okt4 epitope deficiency,True
7363,congenital contractural arachnodactyly,True
10475,X-linked central congenital hypothyroidism with late-onset testicular enlargement,True
7289,cataract 13 with adult I phenotype,True
11651,"intellectual disability, short stature, facial anomalies, and joint dislocations",True
9909,progesterone resistance,True
7151,"arms, malformation of",True
8775,"Amobarbital, deficient N-hydroxylation of",True
13817_12266_12264_12265,preeclampsia/eclampsia,True
8100,nipples inverted,True
60510,Cohen-Gibson syndrome,True
13881,congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome,True
9366,normal pressure hydrocephalus,True
10490,SSR4-CDG,False
32574,"osteochondrodysplasia, brachydactyly, and overlapping malformed digits",True
9059,cysteine Peptiduria,True
14959,"mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant",True
10855,short tarsus-absence of lower eyelashes syndrome,True
10758,"Wieacker-Wolff, X-linked recessive",True
7922,lymphedema-distichiasis syndrome,True
14527,progeroid features-hepatocellular carcinoma predisposition syndrome,True
9522,Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome,True
32920,juvenile arthritis due to defect in LACC1,True
10334,severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome,True
7721,hiatus hernia (disease),True
7497,"ear antitragus, tag at base of",True
13540,deafness-lymphedema-leukemia syndrome,True
9390,hyperlysinuria with hyperammonemia,True
60745,intellectual developmental disorder with or without epilepsy or cerebellar ataxia,True
14765,"woolly hair, autosomal recessive 3",True
44322,intellectual developmental disorder with neuropsychiatric features,True
13419,complement component C1s deficiency,True
7054,acromial dimples,True
14021,familial episodic pain syndrome with predominantly upper body involvement,True
10125,upper limb defect-eye and ear abnormalities syndrome,True
9410,Addison disease,True
11145,colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome,True
9055,cutis marmorata telangiectatica congenita (disease),True
9877,Laron syndrome,True
9842,Pelger-Huet-like anomaly and episodic fever with abdominal pain,True
12324,Frias syndrome,True
10437,severe X-linked mitochondrial encephalomyopathy,True
11927,tufted angioma (disease),True
13892,C3 glomerulonephritis,True
13877,mitochondrial pyruvate carrier deficiency,True
10220,Young syndrome,True
33548,"myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies",True
11672,persistent polyclonal B-cell lymphocytosis,True
23122,familial prostate carcinoma,True
11962,endometrial cancer,True
10421,Bruton-type agammaglobulinemia,True
8815,argininosuccinic aciduria,True
7385,idiopathic spontaneous coronary artery dissection,True
9957,Reese retinal dysplasia,True
10039,congenital heart defect-round face-developmental delay syndrome,True
7969,Melkersson-Rosenthal syndrome,True
32907,lymphatic malformation 8,True
9741_13083_13084_13085_13086_14774,"neuroblastoma, susceptibility",True
10869,motor neuron disease with dementia and ophthalmoplegia,True
13679_10016_17838,sclerosteosis,True
8835,"asthma, short stature, and elevated IgA",True
7702_15284_16432,heart-hand syndrome,True
8586,esophageal atresia/tracheoesophageal fistula,True
10075_32724_19675_18254,spondyloepimetaphyseal dysplasia with joint laxity,True
7338_15092,cleft palate,True
9985,retinohepatoendocrinologic syndrome,True
14552,lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome,True
14388,familial median cleft of the upper and lower lips,True
8978,chordoma (disease),True
9457,"immunoglobulin d level in plasma, low",True
12839,pyogenic bacterial infections due to MyD88 deficiency,True
12596,PSAT deficiency,True
10095,ataxia-tapetoretinal degeneration syndrome,True
7481,Leri-Weill dyschondrosteosis,True
10988,aplasia cutis-myopia syndrome,True
14261,growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome,True
10707,Paine syndrome,True
8681,WAGR syndrome,True
14888,MIRAGE syndrome,True
13321,forsythe-wakeling syndrome,True
10382,fragile X-associated tremor/ataxia syndrome,True
14455,cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome,True
9123,dopamine beta-hydroxylase deficiency,True
14185,chromosome 3q13.31 deletion syndrome,True
10998,ALG3-CDG,False
26722,Mullegama-Klein-Martinez syndrome,True
11730,fumaric aciduria,True
7501,"preauricular fistulae, congenital",True
19917,maternal uniparental disomy of chromosome 20,True
10854,Toriello-Lacassie-Droste syndrome,True
11035,neurofibromatosis-Noonan syndrome,True
9562,beta-mannosidosis,True
8832,right atrial isomerism (disease),True
11369_7751,"hypercholesterolemia, autosomal dominant",True
10992,Ayme-Gripp syndrome,True
10578,deafness dystonia syndrome,True
7777,hypertaurinuric cardiomyopathy,True
12117,ALG9-CDG,False
100282,SC phocomelia syndrome,True
9100,IDDM 1,False
9237,focal epithelial hyperplasia,True
12548,Kostmann syndrome,True
13177,congenital muscular dystrophy due to integrin alpha-7 deficiency,True
7392,coxoauricular syndrome,True
9774,cloacal exstrophy (disease),True
11976,lipodystrophy-intellectual disability-deafness syndrome,True
14246,"episodic pain syndrome, familial, 2",True
32849,"neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies",True
9021,Toriello-Carey syndrome,True
8751,corticosterone methyloxidase type 1 deficiency,True
9835,subacute sclerosing panencephalitis,True
8642,VACTERL/vater association,True
13351,infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly,True
12178,"intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature",True
9971,newborn respiratory distress syndrome,True
12726,autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome,True
18919,McCune-Albright syndrome,True
13640,familial retinal arterial macroaneurysm,True
12436,neonatal diabetes mellitus with congenital hypothyroidism,True
10207,woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome,True
13333,odontoid hypoplasia,True
7187,nevoid basal cell carcinoma syndrome,True
9011,constriction rings syndrome,True
10243,X-linked immunoneurologic disorder,True
20716_10132,familial thyroid dyshormonogenesis,True
26762,"Wieacker-Wolff syndrome, female-restricted",True
10203,"intellectual disability, Wolff type",True
9528,chylomicron retention disease,True
11062,aprosencephaly cerebellar dysgenesis,True
8483_12232_13841_13844,"stuttering, familial persistent",True
8786,pyridoxine-responsive sideroblastic anemia,True
9485,"oculocerebrofacial syndrome, Kaufman type",True
12868,"thrombophilia due to protein S deficiency, autosomal dominant",True
10104,non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome,True
7503,ear without helix,True
13000,porphyria due to ALA dehydratase deficiency,True
9987,autosomal recessive pericentral pigmentary retinopathy,True
13771,transient infantile hypertriglyceridemia and hepatosteatosis,True
8284,polyposis of gastric fundus without polyposis coli,True
12398_12507_8374_19118,retinal cone dystrophy,True
32594,intellectual developmental disorder and retinitis pigmentosa; IDDRP,True
13837,deafness-encephaloneuropathy-obesity-valvulopathy syndrome,True
14081,severe combined immunodeficiency due to CARD11 deficiency,True
8287,Greig cephalopolysyndactyly syndrome,True
10416,"deafness, cataract, retinitis pigmentosa, and sperm abnormalities",True
10572,occipital horn syndrome,True
7093,hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism,True
7181,axial osteomalacia,True
9060,cystic disease of lung,True
13003,isolated congenital hypoglossia/aglossia,True
12251,MEDNIK syndrome,True
8306,ABri amyloidosis,True
14137,"precocious puberty, central, 2",True
9201,"facial abnormalities, kyphoscoliosis, and intellectual disability",True
12764,RIDDLE syndrome,True
8886,Sabinas brittle hair syndrome,True
10428,chromosome Xp11.23-p11.22 duplication syndrome,True
100224_100223,"mitochondrial complex I deficiency, nuclear",True
11621,acropectoral syndrome,True
7727,autosomal dominant familial periodic fever,True
32781,"congenital hypotonia, epilepsy, developmental delay, and digital anomalies",True
8917,heart defects-limb shortening syndrome,True
12005,"growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy",True
13646,chromosome 8q21.11 deletion syndrome,True
33658,neurodevelopmental disorder with seizures and brain atrophy,True
10456,"renal cell carcinoma, Xp11-associated",True
14881,transketolase deficiency,True
9564,Marden-Walker syndrome,True
11179,"leishmaniasis, tegumentary, susceptibility to",True
10608,Hhhh syndrome,True
13214,"bile acid malabsorption, primary",True
8611,humerus trochlea aplasia,True
13194,Pseudopili annulati,True
7593,facial spasm,True
9098,dextrocardia with unusual facies and microphthalmia,True
9582,Mietens syndrome,True
12693,glycogen storage disease due to muscle and heart glycogen synthase deficiency,True
7891,familial generalized lentiginosis,True
12944,"chromosome 17P13.3, telomeric, duplication syndrome",True
9276,Bernard-Soulier syndrome,True
12967,hemolytic anemia due to adenylate kinase deficiency,True
7956,Pai syndrome,True
9513,laryngo-onycho-cutaneous syndrome,True
8295,sporadic porphyria cutanea tarda,True
9137,dysmyelination with jaundice,True
10114,"thanatophoric dysplasia, Glasgow variant",True
8028,"muscular dystrophy, Barnes type",True
7698,hand-foot-genital syndrome,True
8381,dominant pericentral pigmentary retinopathy,True
8612_13199_19341_1734,tuberous sclerosis,True
10116,thoracomelic dysplasia,True
8650,posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome,True
7709,"hematuria, benign familial",True
10008,sarcosinemia,True
7564,pilomatrixoma,True
10103,"teeth, fused",True
60533,"microcephaly, short stature, and limb abnormalities",True
11069,"cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction",True
11995,cataract - congenital heart disease - neural tube defect syndrome,True
7985,"metatarsus varus, type 1",True
8018,Muir-Torre syndrome,True
9396,"hyperparathyroidism, neonatal self-limited primary, with hypercalciuria",True
9527,"lipase deficiency, combined",True
10022,senile plaque formation,True
13341,methylmalonic acidemia due to transcobalamin receptor defect,True
10463,"X-linked dominant chondrodysplasia, Chassaing-Lacombe type",True
8216,pelvic lipomatosis with crossed renal ectopia,True
8908,MGAT2-CDG,False
12400,cortical dysplasia-focal epilepsy syndrome,True
8206,benign paroxysmal tonic upgaze of childhood with ataxia,True
9192,Wolcott-Rallison syndrome,True
9005,complement component C1r/C1s deficiency,True
9691_15821_45071,mycosis fungoides and variants,True
13050,"lethal polymalformative syndrome, Boissel type",True
9415,"hypoglycemia, leucine-induced",True
10907,familial hypertryptophanemia,True
8440,spastic paraplegia-nephritis-deafness syndrome,True
8400,salivary duct calculi,True
10993,Harrod syndrome,True
13090,chromosome 19q13.11 deletion syndrome,True
8219,pemphigus vulgaris,True
12129,"leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema",True
10465_7843_16512,Kabuki syndrome,True
7673,Glucoglycinuria,True
8958,"Klippel-Feil syndrome 2, autosomal recessive",True
8965,CHARGE syndrome,True
20718,congenital short bowel syndrome 1,True
14816,split-foot malformation-mesoaxial polydactyly syndrome,True
10980,"midline malformations, multiple, with limb abnormalities and hypopituitarism",True
9222,Gollop-Wolfgang complex,True
15243,allergic bronchopulmonary aspergillosis,True
7951,"masticatory muscles, hypertrophy of",True
14633,myoclonic-atonic epilepsy,True
12692,"renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies",True
11039,"atrophia maculosa varioliformis cutis, familial",True
8682,Denys-Drash syndrome,True
9763,obesity-hypoventilation syndrome,True
8351,"pupil, egg-shaped",True
8396,"oculodental syndrome, Rutherfurd type",True
10791,"myoglobinuria, recurrent",True
8573,"tibial torsion, bilateral medial",True
20667,Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,True
14014,epidermolysis bullosa simplex due to exophilin 5 deficiency,True
11867,"microphthalmia with cyst, bilateral facial clefts, and limb anomalies",True
14714,progressive microcephaly-seizures-cortical blindness-developmental delay syndrome,True
10772,Leber optic atrophy and dystonia,True
9409,"hypervitaminosis a, susceptibility to",True
44303,congenital heart defects and ectodermal dysplasia,True
13422,type I complement component 8 deficiency,True
8719,"acrorenal syndrome, autosomal recessive",True
14529,cerebellar-facial-dental syndrome,True
10339,X-linked epilepsy-learning disabilities-behavior disorders syndrome,True
12198,PCWH syndrome,True
10477,"blepharophimosis - intellectual disability syndrome, MKB type",True
9268,Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome,True
11559_9469_19008,benign recurrent intrahepatic cholestasis,True
13907_17091_17092_87,polymicrogyria,True
44321,structural heart defects and renal anomalies syndrome,True
7295_15587,rolandic epilepsy,True
13898,karyomegalic interstitial nephritis,True
7306,"Klippel-Feil syndrome 1, autosomal dominant",True
7417,Darier disease,True
9102,diaminopentanuria,True
13595,hyperbiliverdinemia,True
8168,ovarian fibroma (disease),True
7033,abducens nerve palsy,True
8855,MHC class II deficiency,True
10631,incontinentia pigmenti,True
10567,"cone dystrophy, X-linked, with tapetal-like sheen",True
32783_24523_13902_3803,aortic valve disease,True
12589,Pitt-Hopkins syndrome,True
10041,Charlevoix-Saguenay spastic ataxia,True
8188,"papillomatosis, confluent and reticulated",True
11255,mandibulofacial dysostosis-macroblepharon-macrostomia syndrome,True
7838,Jacobsen syndrome,True
10810,"vitamin D hydroxylation-deficient rickets, type 1B",True
14946,Sifrim-Hitz-Weiss syndrome,True
8690,"xeroderma pigmentosum, autosomal dominant, mild",True
14420,short stature due to primary acid-labile subunit deficiency,True
7128,annular erythema,True
11098_12758_12597_12741_13872_11270_12093_12094_12244_12300_12470_12620_12768_12769_12770,"prostate cancer, hereditary",True
11551,TH-deficient dopa-responsive dystonia,True
13077,Santos syndrome,True
9864,"phosphoenolpyruvate carboxykinase deficiency, mitochondrial",True
11240,megalencephaly-capillary malformation-polymicrogyria syndrome,True
54601_54665,pituitary adenoma,True
8181,"palmaris longus muscle, absence of",True
10124,"thumb, distal hyperextensibility of",True
13673,Wolfram-like syndrome,True
7959_2797_2794_517,medulloblastoma,True
14494,"psoriasis 15, pustular, susceptibility to",True
7539,"encephalopathy, recurrent, of childhood",True
9230,"fibrosclerosis, multifocal",True
10640,"Leber optic atrophy, susceptibility to",True
9468,pseudotumor cerebri,True
8968,"cholestasis with gallstone, ataxia, and visual disturbance",True
7377_11855_1490,corneal granular dystrophy,True
20750_20749,polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy,True
9209,autosomal recessive faciodigitogenital syndrome,True
11571,"deafness, autosomal dominant 39, with dentinogenesis imperfecta 1",True
8727,congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency,True
8984,ciliary discoordination due to random ciliary orientation,True
14576,lipoyl transferase 1 deficiency,True
9279,triple-A syndrome,True
9523,Lichtenstein syndrome,True
14801,even-plus syndrome,True
32871,"leukodystrophy, hypomyelinating, 19, transient infantile",True
12784,autosomal recessive ataxia due to ubiquinone deficiency,True
12733,autosomal recessive bestrophinopathy,True
8335,short stature-craniofacial anomalies-genital hypoplasia syndrome,True
7272,hereditary hypercarotenemia and vitamin A deficiency,True
7299_14951_19349,Sotos syndrome,True
7471,Doyne honeycomb retinal dystrophy,True
10199,white forelock with malformations,True
12454,"alcohol sensitivity, acute",True
11936,microphthalmia with brain and digit anomalies,True
7535,"emphysema, hereditary pulmonary",True
14686,"short stature, microcephaly, and endocrine dysfunction",True
8598,trichodysplasia-xeroderma syndrome,True
7277,cataract-aberrant oral frenula-growth delay syndrome,True
13511,"cyanosis, transient neonatal",True
13549,N-acetylaspartate deficiency,True
9808,osteoid osteoma (disease),True
43003,familial acanthosis nigricans,True
10507,Xq25 microduplication syndrome,True
12192,permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome,True
8628,ureterocele (disease),True
8584,torus palatinus and torus mandibularis,True
14890,PERCHING syndrome,True
2974,cervical cancer,True
8417,"sclerocornea, autosomal dominant",True
9138,dysosteosclerosis,True
7724,hirsutism-skeletal dysplasia-intellectual disability syndrome,True
10685_10377,myopia X-linked,True
54636,Skraban-Deardorff syndrome,True
9717,Schwartz-Jampel syndrome,True
9253,Fryns syndrome,True
10126,thymic aplasia with fetal death,True
8903,lung cancer,True
32568,"intellectual developmental disorder with macrocephaly, seizures, and speech delay",True
9197,transient erythroblastopenia of childhood,True
10866,infantile osteopetrosis with neuroaxonal dysplasia,True
9855,d-bifunctional protein deficiency,True
8637,bifid uvula,True
8233,phaeochromocytoma,True
10181,oculogastrointestinal muscular dystrophy,True
10093,syndesmodysplasic dwarfism,True
11946,diaphanospondylodysostosis,True
11079,"rhizomelic dysplasia, Patterson-Lowry type",True
12774,chromosome 15q13.3 microdeletion syndrome,True
11811,autosomal recessive cerebellar ataxia-saccadic intrusion syndrome,True
14936,ZTTK syndrome,True
7068,adenylosuccinate lyase deficiency,True
32897,intellectual developmental disorder with hypotonia and behavioral abnormalities,True
9146,ectodermal dysplasia-sensorineural deafness syndrome,True
12323,lethal acantholytic epidermolysis bullosa,True
10222,X-linked Opitz G/BBB syndrome,True
7588,extrasystoles-short stature-hyperpigmentation-microcephaly syndrome,True
10717,pyruvate dehydrogenase E1-alpha deficiency,True
9394,juvenile Paget disease,True
7382,Ramos-Arroyo syndrome,True
13111,acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins,True
12703,lissencephaly due to TUBA1A mutation,True
20717,autosomal dominant woolly hair,True
12873,"Ehlers-Danlos syndrome, spondylocheirodysplastic type",True
7355,uveal coloboma-cleft lip and palate-intellectual disability,True
7193_5388_13079_13080_13636_13637,primary biliary cholangitis,True
44311,"brachycephaly, trichomegaly, and developmental delay",True
9477,Stromme syndrome,True
13272,chromosome 14q11-q22 deletion syndrome,True
7086,autosomal dominant Alport syndrome,True
9780,lethal omphalocele-cleft palate syndrome,True
14149,fetal akinesia-cerebral and retinal hemorrhage syndrome,True
10478,SLC35A2-CDG,True
11646,laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy,True
10976,KRT14-related epidermolysis bullosa simplex,True
8212,Pechet factor deficiency,True
13587,glycogen storage disease due to lactate dehydrogenase H-subunit deficiency,True
7155,"arteritis, familial granulomatous, with juvenile polyarthritis",True
12794,ANE syndrome,True
9990,Revesz syndrome,True
7361,C1 inhibitor deficiency,True
9628,microcolon (disease),True
7169,atherosclerosis susceptibility,True
9969,renal-genital-middle ear anomalies,True
8707,acro-renal-mandibular syndrome,True
12212_12427_13897_18954,Loeys-Dietz syndrome,True
10651,Menkes disease,True
32903,"arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum",True
9791,"oral sensibility, disturbance of",True
9529,pyruvate dehydrogenase E3 deficiency,True
32879,"megabladder, congenital",True
9015,corneal dystrophy-perceptive deafness syndrome,True
10695,"occipital hair, white lock of",True
9972,respiratory underresponsiveness to hypoxia and hypercapnia,True
9140,Silverman-Handmaker type dyssegmental dysplasia,True
7626_20256,congenital trochlear nerve palsy,True
7884,"leg ulcers, familial, of juvenile onset",True
10962_7758_14622_19272_6588_18865_17667_17673_17672_44663,palmoplantar keratoderma,True
10979,Timothy syndrome,True
32741,neurodevelopmental disorder with impaired speech and hyperkinetic movements,True
8645,ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome,True
8812,AREDYLD syndrome,True
11486_12279_19950_20121_23595_18281,muscular dystrophy,True
12032,Braddock syndrome,True
7656,Gerstmann-Straussler-Scheinker syndrome,True
9941,Pygmy,False
10338,X-linked distal spinal muscular atrophy type 3,True
9490,Papillon-Lefevre disease,True
7899,lichen sclerosus et atrophicus,True
9263,gapo syndrome,True
14969,isolated sedoheptulokinase deficiency,True
7765,hyperostosis cranialis interna (disease),True
12964,chromosome 15q26-qter deletion syndrome,True
30028,"neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline",True
9789,"nonarteritic anterior ischemic optic neuropathy, susceptibility to",True
10856,autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis,True
10876,recessive aplasia cutis congenita of limbs,True
14708,ring chromosome 14,True
9742,neuroectodermal melanolysosomal disease,True
11044,"ectrodactyly of lower limbs, congenital heart defect, and micrognathia",True
9108,hyperdibasic aminoaciduria type 1,True
44792,large congenital melanocytic nevus,True
10587,"epidermodysplasia verruciformis, X-linked",True
12809,"histiocytoma, Angiomatoid fibrous",True
60577,"neurodevelopmental disorder with microcephaly, ataxia, and seizures",True
9946,hemolytic anemia due to pyrimidine 5' nucleotidase deficiency,True
7686,gray platelet syndrome,True
11861,breath-holding Spells,True
7610,gingival fibromatosis-hypertrichosis syndrome,True
11393_17773_32766,hypoalphalipoproteinemia,True
8022,"muscle cramps, familial",True
11970,rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome,True
7732,Holt-Oram syndrome,True
14238,severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome,True
9890,Gillessen-Kaesbach-Nishimura syndrome,True
7472,basal laminar drusen,True
14128,TCF12-related craniosynostosis,True
10462,syndromic X-linked intellectual disability Chudley-Schwartz type,True
12718,hypotonia with lactic acidemia and hyperammonemia,True
12208_19306,congenital ichthyosiform erythroderma,True
9471,"intrinsic factor and r binder, combined congenital deficiency of",True
8460,splenogonadal fusion-limb defects-micrognathia syndrome,True
32736,"metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression",True
10780,mitochondrial myopathy with reversible cytochrome C oxidase deficiency,True
7813,ichthyosis bullosa of Siemens,True
10759,Wildervanck syndrome,True
13280,myxoid liposarcoma,True
12864,chromosome 2q32-q33 deletion syndrome,True
10646,"macular dystrophy, X-linked",True
7885,Legg-Calve-Perthes disease,True
60659,neurodevelopmental disorder with poor language and loss of hand skills,True
44306,"neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination",True
12307,"familial scaphocephaly syndrome, McGillivray type",True
8255,platelet factor 3 deficiency,True
9402,hypertelorism-hypospadias-polysyndactyly syndrome,True
10773,myopathy and diabetes mellitus,True
7354,coloboma of optic nerve (disease),True
7780,"hypertelorism, Teebi type",True
8475,spondylolisthesis (disease),True
7381,epithelial recurrent erosion dystrophy,True
8138,syndromic orbital border hypoplasia,True
7651,gastrocutaneous syndrome,True
7274,carpal displacement,True
10491,X-linked acrogigantism due to Xq26 microduplication,True
11504,NDE1-related microhydranencephaly,True
9131,Riley-Day syndrome,True
7739,Huntington disease,True
7439,deoxyribose-5-phosphate aldolase deficiency,True
30841_30843_10159_30840_31219,mismatch repair cancer syndrome,True
100325_31169,odontochondrodysplasia,True
10519,alpha thalassemia-X-linked intellectual disability syndrome,True
7623,flushing of ears and somnolence,True
13336,chromosome 19p13.13 deletion syndrome,True
32698,neurodevelopmental disorder with central and peripheral motor dysfunction,True
9198,congenital lethal erythroderma,True
13721,complement component 4a deficiency,True
10634,"jaundice, familial obstructive, of infancy",True
14551,short stature with nonspecific skeletal abnormalities,True
10130,dihydropyrimidine dehydrogenase deficiency,True
7546,"myeloproliferative disorder, chronic, with eosinophilia",True
7327,"chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase",True
7202,blepharoptosis-myopia-ectopia lentis syndrome,True
54749,obsolete body mass index quantitative trait locus 19,True
10400,X-linked scapuloperoneal muscular dystrophy,True
14526_192_18348,polyglucosan body myopathy,True
9892,Chuvash polycythemia,True
9598,metaphyseal chondrodysplasia-retinitis pigmentosa syndrome,True
32705,"neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination",True
54591,Stankiewicz-Isidor syndrome,True
15397,oculo-auriculo-vertebral spectrum,True
9847,"pericardial effusion, chronic",True
10815,spondyloepiphyseal dysplasia tarda with characteristic facies,True
8698,achalasia (disease),True
8722,short chain acyl-CoA dehydrogenase deficiency,True
14460,nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome,True
13618,craniofacial anomalies and anterior segment dysgenesis syndrome,True
9958_21665,Refsum disease,True
11230,ossification of the posterior longitudinal ligament of the spine,True
7062_17448_17506_17507_17508,congenital absence/hypoplasia of fingers or thumb,True
20458,hemolytic anemia due to erythrocyte adenosine deaminase overproduction,True
14522,retinal dystrophy and obesity,True
8674,WHIM syndrome,True
14710,autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency,True
7030,autosomal dominant Aarskog syndrome,True
7661,Tourette syndrome,True
7429,"optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy",True
8508,"symphalangism, C. S. Lewis type",True
14115,hypomyelination with brain stem and spinal cord involvement and leg spasticity,True
14698,microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome,True
10618,familial isolated hypoparathyroidism due to agenesis of parathyroid gland,True
11977,8q22.1 microdeletion syndrome,True
9483,kapur-Toriello syndrome,True
14224,developmental delay with autism spectrum disorder and gait instability,True
8161,otodental syndrome,True
10895,ABCD syndrome,True
7685,granulosis rubra nasi,True
10584,"dyskeratosis congenita, X-linked",True
12191,hepatoencephalopathy due to combined oxidative phosphorylation defect type 1,True
8343,pulmonary atresia with ventricular septal defect,True
9797,orotic aciduria,True
8632,"urticaria, aquagenic",True
14819_24455_14591_8389,autosomal dominant Robinow syndrome,True
10280,"ptosis, hereditary congenital 2",True
7492_100016,early-onset generalized dystonia,True
10850_15416_15417,Tessier number 4/5/6 facial cleft,True
10659,FRAXE intellectual disability,True
8721,medium chain acyl-CoA dehydrogenase deficiency,True
12252_13224,rhabdoid tumor predisposition syndrome,True
8495,platelet storage pool deficiency,True
8571,"Blount disease, infantile",True
7249,camptobrachydactyly,True
12594,complement factor I deficiency,True
10874,"enteropathy, familial, with villous edema and immunoglobulin G2 deficiency",True
13775,thrombomodulin-related bleeding disorder,True
14317,pancytopenia-developmental delay syndrome,True
100220_100215_100214,Rajab interstitial lung disease with brain calcifications,True
7334,autosomal dominant popliteal pterygium syndrome,True
8606,Say-field-Coldwell syndrome,True
30012,Diets-Jongmans syndrome,True
9576,megalocornea (disease),True
8327,exfoliation syndrome,True
14645,BENTA disease,True
13688,linear and whorled nevoid hypermelanosis,True
11243,grange syndrome,True
8356,"radial heads, posterior dislocation of",True
9579,Frank-Ter Haar syndrome,True
13394,porencephaly-microcephaly-bilateral congenital cataract syndrome,True
13894,short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome,True
9246,Friedreich ataxia and congenital glaucoma,True
12271,mesoaxial synostotic syndactyly with phalangeal reduction,True
9517,Donohue syndrome,True
32759,intellectual developmental disorder with short stature and variable skeletal anomalies,True
14789,CCDC115-CDG,True
13598,myostatin-related muscle hypertrophy,True
11235,pelvic dysplasia-arthrogryposis of lower limbs syndrome,True
10677,"muscular dystrophy, Mabry type",True
14609,cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome,True
9305,granulocytopenia with immunoglobulin abnormality,True
9984,late-adult onset retinitis pigmentosa,True
10425,Lisch epithelial corneal dystrophy,True
9286,"gluteal muscles, absence of",True
12430_24542_14104_13188_9133,"cerebellar ataxia, intellectual disability, and dysequilibrium",True
10252_100195,X-linked intellectual disability with hypopituitarism,True
8486,steatocystoma multiplex-natal teeth syndrome,True
7753,Frey syndrome,True
11139,preaxial hallucal polydactyly,True
7544,"eosinophilia, familial",True
9036,"cardiocranial syndrome, Pfeiffer type",True
8838,ataxia - deafness - intellectual disability syndrome,True
10096,tardive dyskinesia (disease),True
10900,intrauterine growth retardation with increased mitomycin c sensitivity,True
9932,pulmonary bullae causing pneumothorax,True
10721,"reticuloendotheliosis, X-linked",True
13310,congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency,True
12833,Crouzon syndrome-acanthosis nigricans syndrome,True
7104,amyotrophic lateral sclerosis-parkinsonism-dementia complex,True
9956,red skin pigment anomaly of new guinea,True
8452,"spinal muscular atrophy, facioscapulohumeral type",True
9097_19631_12653,persistent hyperplastic primary vitreous,True
14873,nevus comedonicus syndrome,True
13865,mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency,True
14507,Catel-Manzke syndrome,True
8459,spinocerebellar atrophy with pupillary paralysis,True
8915,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,True
60759,"neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures",True
7979,metachondromatosis,True
8014,nondisjunction,True
60712,"developmental delay, intellectual disability, obesity, and dysmorphic features",True
11775_14902_8067,"nasopharyngeal carcinoma, susceptibility to",True
7195,"bifid nose, autosomal dominant",True
10443,"macular degeneration, X-linked atrophic",True
7203,blue rubber bleb nevus,True
10858,macrocephaly-spastic paraplegia-dysmorphism syndrome,True
12530,palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome,True
8221,prolidase deficiency,True
12076,"midface hypoplasia, obesity, developmental delay, and neonatal hypotonia",True
8020,multiple exostoses with spastic tetraparesis,True
12269,chromosome 3q29 microdeletion syndrome,True
29134,severe combined immunodeficiency due to CARMIL2 deficiency,True
11614,3-hydroxy-3-methylglutaryl-CoA synthase deficiency,True
7316_8816_115_22715_22716,Chiari malformation,True
7648_5017,diffuse gastric adenocarcinoma,True
30073,Mitchell syndrome,True
7973,mental and growth retardation with amblyopia,True
9872,Bjornstad syndrome,True
10526,Fabry disease,True
8641,retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations,True
8697,obsolete acetophenetidin sensitivity,True
9585,encephalopathy due to beta-mercaptolactate-cysteine disulfiduria,True
14731,seizures-scoliosis-macrocephaly syndrome,True
14335,diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome,True
13171,purine nucleoside phosphorylase deficiency,True
8466,Karsch-Neugebauer syndrome,True
7234,branchial myoclonus with spastic paraparesis and cerebellar ataxia,True
11565,metabolic syndrome X,True
10625,"immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein",True
10811,benign prostatic hyperplasia (disease),True
10029,situs inversus,True
12479,congenital malabsorptive diarrhea 4,True
14899,adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency,True
7570,erythema palmare hereditarium,True
10515,Meester-Loeys syndrome,True
10187_11837,"vitamin K-dependent clotting factors, combined deficiency of,",True
10268,X-linked lissencephaly with abnormal genitalia,True
7890,"lentiginosis, centrofacial neurodysraphic",True
10808,fatal familial insomnia,True
9418,hypogonadism with low-grade mental deficiency and microcephaly,True
12161,susceptibility to respiratory infections associated with CD8alpha chain mutation,True
18657,pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome,True
10482,X-linked parkinsonism-spasticity syndrome,True
7313,cheilitis glandularis,True
10748,torticollis-keloids-cryptorchidism-renal dysplasia syndrome,True
10111,odontotrichomelic syndrome,True
7904,median nodule of the upper lip,True
14785_208,"microcephaly, short stature, and impaired glucose metabolism",True
8058,cylindrical spirals myopathy,True
7595,"factor VII and Factor VIII, combined deficiency of",True
8754,alopecia - contractures - dwarfism - intellectual disability syndrome,True
10520,X-linked Alport syndrome,True
13875,"3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome",True
12417,"heart-hand syndrome, Slovenian type",True
14060,progressive retinal dystrophy due to retinol transport defect,True
11579,late-onset retinal degeneration,True
30062,"arrhythmogenic right ventricular dysplasia, familial, 14",True
10464,X-linked cerebral-cerebellar-coloboma syndrome syndrome,True
8463,split-hand and split-foot with hypodontia,True
20769_20763_20774,Menke-Hennekam syndrome,True
9120,"marfanoid syndrome, De Silva type",True
10081,"subaortic stenosis, membranous",True
10873,band heterotopia of brain,True
30065,"agenesis of corpus callosum, cardiac, ocular, and genital syndrome",True
11018,brachyolmia-amelogenesis imperfecta syndrome,True
8270_17525_17526,polydactyly of a triphalangeal thumb,True
32787,holoprosencephaly 12 with or without pancreatic agenesis,True
14274,L-ferritin deficiency,True
13349,ALG11-CDG,False
12467_10091_15526,cold-induced sweating syndrome,True
7754,hyperhidrosis palmaris ET plantaris,True
7957,mediosternal depigmentation line,True
12914,chromosome 1q21.1 deletion syndrome,True
10153,trichoodontoonychial dysplasia,True
10676,"muscular dystrophy, Hemizygous lethal type",True
10063,corneal-cerebellar syndrome,True
13026,subepithelial mucinous corneal dystrophy,True
11380,leukoencephalopathy with vanishing white matter,True
8875,blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome,True
7998,microspherophakia-metaphyseal dysplasia syndrome,True
9711,congenital fiber-type disproportion myopathy,True
7198,Ascher syndrome,True
13797,chromosome 17q12 deletion syndrome,True
8762,autosomal recessive Alport syndrome,True
7814,"immune deficiency, familial variable",True
8477,"spondylometaphyseal dysplasia, Kozlowski type",True
13812_9470,Baraitser-winter syndrome,True
9127,"dwarfism, low-birth-weight type, with unresponsiveness to growth hormone",True
14492,woolly hair-palmoplantar keratoderma syndrome,True
10754,van den Bosch syndrome,True
9210,congenital factor V deficiency,True
8169,"osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension",True
7180,"Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities",True
9970,renal tubular dysgenesis of genetic origin,True
7991,microcephaly-deafness-intellectual disability syndrome,True
32793,O'Donnell-Luria-Rodan syndrome,True
8524,"syringomas, multiple",True
30060,neurodevelopmental disorder with language impairment and behavioral abnormalities,True
9841,PEHO syndrome,True
60532,congenital heart defects and skeletal malformations syndrome,True
12761,chromosome 3q29 microduplication syndrome,True
8576,"toe, fifth, number of phalanges 1N",True
9618,microcephaly-cardiomyopathy syndrome,True
8600,trigger thumb,True
7992,microcornea-glaucoma-absent frontal sinuses syndrome,True
11334,limb-mammary syndrome,True
7446,dermatosis papulosa nigra,True
32660,"spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant",True
9524,intellectual disability-spasticity-ectrodactyly syndrome,True
7042,Saethre-Chotzen syndrome,True
9113,hemolytic anemia due to diphosphoglycerate mutase deficiency,True
8170,ovarian cancer,True
11099,human HOXA1 syndromes,True
14833,heart and brain malformation syndrome,True
10842,multiple cutaneous and mucosal venous malformations,True
2629,bone osteosarcoma,True
9202,Thakker-Donnai syndrome,True
11724,encephalopathy due to GLUT1 deficiency,True
8626,"ureter, bifid or double",True
14679,"polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis",True
11024,"dermatitis herpetiformis, familial",True
7947,Marfan syndrome,True
14748,progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome,True
7212,brachydactyly-long thumb syndrome,True
10710,Pierre Robin syndrome-faciodigital anomaly syndrome,True
12216,foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome,True
13533,hyperlipidemia due to hepatic triglyceride lipase deficiency,True
11986_4982_5003_6515_3232,pancreatitis,True
32889,Poirier-Bienvenu neurodevelopmental syndrome,True
11882,skin fragility-woolly hair-palmoplantar keratoderma syndrome,True
14948,"short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay",True
10742,pentalogy of Cantrell,True
9346,histidinuria due to a renal tubular defect,True
13574,cutis laxa - Marfanoid syndrome,True
10704_10571_19027,otopalatodigital syndrome,True
10939,low phospholipid associated cholelithiasis,True
10200,Wilson disease,True
8142,"Thiemann disease, familial form",True
8271_17528,polydactyly of an index finger,True
13254,"microcephaly, seizures, and developmental delay",True
8092,hereditary neutrophilia,True
8695,chorea-acanthocytosis,True
8288,popliteal cyst,True
7592,familial recurrent peripheral facial palsy,True
60568,Pilarowski-Bjornsson syndrome,True
8558_19098,autoimmune thrombocytopenic,True
11599,birdshot chorioretinopathy,True
10580,immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome,True
8497,Stormorken syndrome,True
8044_14620_11844,myoclonic dystonia,True
60564,HELIX syndrome,True
8334_13554_11084_11387_11434_11542_11573_11926_12542_12896_12959_13057,psoriasis susceptibility to,True
10683,X-linked centronuclear myopathy,True
8038,ataxia-pancytopenia syndrome,True
33554,immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia,True
14353,PGM3-CDG,False
20793_30134_25193,oculopharyngodistal myopathy,True
7781,"essential hypertension, genetic",True
11479,postural orthostatic tachycardia syndrome,True
9570,McDonough syndrome,True
9188,epilepsy-telangiectasia syndrome,True
11513,"Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology",True
7860,focal palmoplantar and gingival keratoderma,True
8307,"presenile dementia, Kraepelin type",True
8502,"sulfhemoglobinemia, congenital",True
9421,"hypogonadism, male",True
7391,coxa vara (disease),True
7476,familial Dupuytren contracture,True
10257_10405,"prostate cancer, hereditary, X-linked",True
8013,chromosome 9p deletion syndrome,True
14931,Alazami-Yuan syndrome,True
10060,infantile onset spinocerebellar ataxia,True
8087,hereditary neuropathy with liability to pressure palsies,True
9053,ALDH18A1-related de Barsy syndrome,True
9703,myopathy with abnormal lipid metabolism,True
8948,cerebrotendinous xanthomatosis,True
12163,"severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive",True
7507,absence of fingerprints-congenital milia syndrome,True
9150,hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome,True
8189,"papillomatosis, florid, of nipple",True
30035,"leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome",True
8930_11793_12339_12340_12341_12702_12776_12777_12778_12779_12780_12781_12782,"celiac disease, susceptibility to",True
8563,thumb stiffness-brachydactyly-intellectual disability syndrome,True
10824,disorder of sex development-intellectual disability syndrome,True
13803,leukoencephalopathy with calcifications and cysts,True
33135,"Charcot-Marie-Tooth disease, demyelinating, type 1G",True
8127,ophthalmomandibulomelic dysplasia,True
14556,"congenital contractures of the limbs and face, hypotonia, and developmental delay",True
8844,"Athrombia, essential",True
9928,pulmonary alveolar microlithiasis,True
9904,Gitelman syndrome,True
12992,pancreatic insufficiency-anemia-hyperostosis syndrome,True
8301,Guttmacher syndrome,True
9583,"blepharophimosis - intellectual disability syndrome, Ohdo type",True
10546,"central incisors, absence of",True
13607,monocytopenia with susceptibility to infections,True
32642,"arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development",True
13043,atypical hemolytic-uremic syndrome with C3 anomaly,True
9347,familial lipochrome histiocytosis,True
9084,conductive deafness-ptosis-skeletal anomalies syndrome,True
9530,lipoid proteinosis,True
12860,"thrombophilia due to protein C deficiency, autosomal recessive",True
9312,lipodystrophy due to peptidic growth factors deficiency,True
8113,Schilbach-Rott syndrome,True
7297,ADan amyloidosis,True
10340_10343,"Asperger syndrome, X-linked, susceptibility to",True
10938,T-B+ severe combined immunodeficiency due to JAK3 deficiency,True
13189,trichotillomania,True
10278,Christianson syndrome,True
7410,isolated cryptophthalmia,True
14168,severe combined immunodeficiency due to CORO1A deficiency,True
9634,microtia with meatal atresia and conductive deafness,True
13601,gluthathione peroxidase deficiency,True
11246,megaconial type congenital muscular dystrophy,True
15012,mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders,True
12270,Tukel syndrome,True
7405,Crouzon syndrome,True
7628_44203,foveal hypoplasia,True
9089,deafness-oligodontia syndrome,True
9846,pentosuria,False
11359,acromelic frontonasal dysostosis,True
7573,"acute erythroleukemia, familial",True
11052,amelia cleft lip palate hydrocephalus iris coloboma,True
10745,beta-thalassemia-X-linked thrombocytopenia syndrome,True
11638,neuroferritinopathy,True
10889,arterial dissection-lentiginosis syndrome,True
13999,optic nerve edema-splenomegaly syndrome,True
10636,Kallmann syndrome with spastic paraplegia,True
11510,Bohring-Opitz syndrome,True
14298,chromosome 5q12 deletion syndrome,True
7886,uterine corpus leiomyoma,True
8052,myopathy with storage of glycoproteins and Glycosaminoglycans,True
10337,X-linked intellectual disability-cerebellar hypoplasia syndrome,True
13245,syndromic multisystem autoimmune disease due to ITCH deficiency,True
10650,Melnick-Needles syndrome,True
9895,postaxial polydactyly-dental and vertebral anomalies syndrome,True
12545,neutral lipid storage myopathy,True
7971,delayed membranous cranial ossification,True
10403,albinism-deafness syndrome,True
12675,corticosteroid-binding globulin deficiency,True
9281,glutaryl-CoA dehydrogenase deficiency,True
9950,pyruvate kinase deficiency of red cells,True
8201,Perry syndrome,True
10610,holoprosencephaly-hypokinesia-congenital contractures syndrome,True
9546,macrosomia adiposa congenita,True
14892,micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome,True
7923,"macrocephaly, benign familial",True
8789,"anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane",True
32843,oculopharyngeal myopathy with leukoencephalopathy 1,True
9852,congenital intrinsic factor deficiency,True
11714,"partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome",True
11885,tubulointerstitial nephritis and uveitis syndrome,True
8852,congenital central hypoventilation syndrome,True
8373,retinal arterial tortuosity (disease),True
10092,Filippi syndrome,True
8478,"spondylometaphyseal dysplasia, Schmidt type",True
32596,"myasthenic syndrome, congenital, 23, presynaptic",True
14662,congenital insensitivity to pain-hypohidrosis syndrome,True
1046,imperforate anus,True
14049_9368,urofacial syndrome,True
9142,dystonia with Ringbinden,True
7644,IgAD1,False
8893,C syndrome,False
11146_18030_13668_18028_19525_30502_19864,tetrasomy,False
19154,androgen insensitivity syndrome,True
9929,neonatal acute respiratory distress due to SP-B deficiency,True
7775,"hypersecretion of adrenal androgens, familial",True
32909,"mitochondrial complex 3 deficiency, nuclear type 10",True
8273,actinic prurigo,True
14957,language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia,True
13458,hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome,True
10947,Budd-Chiari syndrome,True
12177,posterior column ataxia-retinitis pigmentosa syndrome,True
8166,"ovalocytosis, hereditary hemolytic, with defective erythropoiesis",True
14449,congenital analbuminemia,True
13273,chromosome 16p13.3 duplication syndrome,True
10785,maternally-inherited diabetes and deafness,True
8904,"camptomelic syndrome, long-limb type",True
54697,immunodeficiency 11b with atopic dermatitis,True
7878,congenital laryngomalacia,True
12369_12835_10433_11138_11520_11560_11807_11942_11943_11944_12036_12361_12403_12404_12584_12834_12836_12884_13152,"systemic lupus erythematosus, susceptibility to",True
7879,larynx atresia,True
9187,celiac disease-epilepsy-cerebral calcification syndrome,True
12473,"right pulmonary artery, anomalous origin of, familial",True
9688_18325,myasthenia gravis,True
32873,retinitis pigmentosa 87 with choroidal involvement,True
9464,immunodeficiency with defective T-cell response to interleukin 1,True
14160,TCR-alpha-beta-positive T-cell deficiency,True
8078,"neurofibromatosis, familial spinal",True
13163,nephronophthisis-like nephropathy 1,True
8419_12115_11820_12826_12827,"scoliosis, isolated, susceptibility to",True
8615,tune deafness,True
14940,"neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset",True
7566,multiple self-healing squamous epithelioma,True
7519,Edinburgh malformation syndrome,True
10100,Tay-Sachs disease,True
8592,tricho-dento-osseous syndrome,True
9180_19307_16673,"junctional epidermolysis bullosa, non-Herlitz type",True
8533,"teeth, supernumerary",True
10712,"panhypopituitarism, X-linked",True
9495,Keutel syndrome,True
8506,symphalangism of toes,True
7102,amyotrophic dystonic paraplegia,True
13523,Nestor-Guillermo progeria syndrome,True
7986,metatropic dysplasia,True
7106,anal sphincter dysplasia,True
11537,macrocephaly-autism syndrome,True
10614,X-linked congenital generalized hypertrichosis,True
7652,gastric mucosal hypertrophy,True
10480,"anemia, nonspherocytic hemolytic, due to G6PD deficiency",True
7650,MALT lymphoma,True
10696,"omphalocele, X-linked",True
18794,cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder,True
10118,Threoninemia,True
9883,alpha-2-plasmin inhibitor deficiency,True
8001,"milia, multiple eruptive",True
9353,homocystinuria due to methylene tetrahydrofolate reductase deficiency,True
7383,Stern-Lubinsky-Durrie syndrome,True
9512,lethal Larsen-like syndrome,True
32647,"global developmental delay, lung cysts, overgrowth, and wilms tumor",True
32886,Liang-Wang syndrome,True
14944,short stature-brachydactyly-obesity-global developmental delay syndrome,True
8310,Hutchinson-Gilford progeria syndrome,True
10049,spastic paraplegia-glaucoma-intellectual disability syndrome,True
13178,congenital muscular dystrophy due to LMNA mutation,True
14889_10774_3122,striatonigral degeneration,True
12176,Emanuel syndrome,True
13535,hydroxyacyl glutathione hydrolase deficiency,True
11853,"Camptosynpolydactyly, complex",True
33006,"Galloway-Mowat syndrome 2, X-linked",True
7199,"blepharochalasis, superior",True
9736_14466_179,Neu-Laxova syndrome,True
7460,"discrimination, Two-point, reduction 1N",True
7358,"comedones, familial Dyskeratotic",True
7747,isolated hyperchlorhidrosis,True
10175,van Bogaert-Hozay syndrome,True
11326,"citrullinemia, type II, adult-onset",True
13960,sinoatrial node dysfunction and deafness,True
7252,Gordon syndrome,True
13353,"intellectual disability, anterior maxillary protrusion, and strabismus",True
9899,"polyhydramnios, chronic idiopathic",True
8896,"campomelia, Cumming type",True
11041,"ectodermal dysplasia with natal teeth, Turnpenny type",True
7107,"anal sphincter myopathy, internal",True
10997_12278_19037_12576,progressive supranuclear palsy,True
9472,"acetylation, slow",True
10221,CHIME syndrome,True
11172,otofacioosseous-gonadal syndrome,True
9879,short stature due to growth hormone qualitative anomaly,True
60752,neurodevelopmental disorder with spasticity and poor growth,True
11432,"blepharophimosis - intellectual disability syndrome, Verloes type",True
11577,"myopathy, proximal, and ophthalmoplegia",True
11435,"microcephaly 2, primary, autosomal recessive, with or without cortical malformations",True
14510,fatty acyl-CoA reductase 1 deficiency,True
9682,"muscular dystrophy, congenital, with rapid progression",True
11037,"renal dysplasia, cystic, susceptibility to",True
7531,electroencephalographic peculiarity: fronto-precentral beta wave groups,True
20108_16450_19532,autoimmune hemolytic anemia,True
11778,"multiple epiphyseal dysplasia, Al-Gazali type",True
13760,congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome,True
7401,craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome,True
9129,"dwarfism, proportionate, with hip dislocation",True
7449,dermo-odonto dysplasia,True
8096,nevus flammeus of nape of neck,True
9561_17732_17733,alpha-mannosidosis,True
7817,"IgE responsiveness, atopic",True
9718,myxedema,False
9863,BH4-deficient hyperphenylalaninemia A,True
54743,polycystic liver disease 3 with or without kidney cysts,True
12242,"syncope, familial vasovagal",True
7325,"choreoathetosis, familial inverted",True
7571,primary erythermalgia,True
60704,neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures,True
7808,ichthyosis hystrix of Curth-Macklin,True
8928,cataract-ataxia-deafness syndrome,True
8510,symphalangism with multiple anomalies of hands and feet,True
8830,aspartylglucosaminuria,True
7375,epithelial basement membrane dystrophy,True
7131,anonychia with flexural pigmentation,True
7690,aromatase excess syndrome,True
14973,"sudden cardiac failure, infantile",True
14870,NEK9-related lethal skeletal dysplasia,True
10003,Rowley-Rosenberg syndrome,True
9095,"dermatoosteolysis, Kirghizian type",True
32796,"hyper-ige recurrent infection syndrome 4, autosomal recessive",True
10865,pseudoaminopterin syndrome,True
14751,palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome,True
14405,STING-associated vasculopathy with onset in infancy,True
9486,autosomal recessive Kenny-Caffey syndrome,True
13364,Rubinstein-Taybi syndrome due to EP300 haploinsufficiency,True
1187,urinary bladder cancer,True
10576,X-linked mixed deafness with perilymphatic gusher,True
8547_8546_17042,thanatophoric dysplasia,True
8217,pelvis-shoulder dysplasia,True
14760,TFRC-related combined immunodeficiency,True
9851,"peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain",True
7386,obsolete human coronavirus sensitivity,True
14717,early-onset Lafora body disease,True
33261,"deafness, autosomal dominant 34, with or without inflammation",True
20738_7990,multiple benign circumferential skin creases on limbs,True
8111,oculodentodigital dysplasia,True
12156,"myasthenic syndrome, congenital, 1B, fast-channel",True
12481,mevalonic aciduria,True
13352,intellectual disability-severe speech delay-mild dysmorphism syndrome,True
9988,retinoschisis of fovea,True
8278,juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome,True
32855,neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies,True
7486,hereditary benign intraepithelial dyskeratosis,True
12579,autoimmune pulmonary alveolar proteinosis,True
7705,Heinz body anemia,True
9072,Dandy-Walker syndrome,True
8456,spinocerebellar ataxia with rigidity and peripheral neuropathy,True
7975,"meralgia paraesthetica, familial",True
13246,"fatty liver disease, nonalcoholic, susceptibility to, 2",True
9257,galactose epimerase deficiency,True
13714,mannose-binding lectin deficiency,True
9491,Haim-Munk syndrome,True
8752_18209_18210,Alexander disease,True
10540,"bullous dystrophy, macular type",True
10163,Tyrosinosis,True
8996,Joubert syndrome with hepatic defect,True
13885,Malan overgrowth syndrome,True
8839,ataxia-microcephaly-cataract syndrome,True
32688,polymicrogyria with or without vascular-type ehlers-danlos syndrome,True
12672,cholelithiasis,True
8991,Verloove Vanhorick-Brubakk syndrome,True
11204,obsolete cerebellar degeneration-related autoantigen 3,True
60666,"hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome",True
13172,polymicrogyria with optic nerve hypoplasia,True
8276,generalized juvenile polyposis/juvenile polyposis coli,True
11236,hyperinsulinism due to glucokinase deficiency,True
32755,neurodevelopmental disorder with or without variable brain abnormalities; NEDBA,True
8280,Peutz-Jeghers syndrome,True
10167,urocanic aciduria (disease),True
14369,postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome,True
7528,"Ehlers-Danlos syndrome, autosomal dominant, type unspecified",True
30025,"neurodevelopmental disorder with hypotonia, microcephaly, and seizures",True
33644,"microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1",True
7621,floating-Harbor syndrome,True
60760,intellectual developmental disorder with dysmorphic facies and behavioral abnormalities,True
32654,"hyper-IgE recurrent infection syndrome 3, autosomal recessive",True
8907,PMM2-CDG,False
9175,eosinophilic fasciitis (disease),True
32864,"intellectual developmental disorder with speech delay, autism, and dysmorphic facies",True
14602,intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome,True
9700,Carey-Fineman-Ziter syndrome,True
9030,"cranial nerves, recurrent paresis of",True
8971,chondrodysplasia calcificans Metaphysealis,True
13320,chromosome 16p12.2-p11.2 deletion syndrome,True
44718,alkaline ceramidase 3 deficiency,True
7209,Weismann-Netter syndrome,True
7098,ACys amyloidosis,True
10401,X-linked myopathy with postural muscle atrophy,True
11092,ribbing disease,True
8692,abetalipoproteinemia,True
8828,camptodactyly-arthropathy-coxa vara-pericarditis syndrome,True
14648,Al-Raqad syndrome,True
14567,glutamate pyruvate transaminase 2 deficiency,True
32922,Beck-Fahrner syndrome,True
8881,kyphomelic dysplasia,True
14784,severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome,True
10591,fingerprint body myopathy,True
9460,indolylacroyl glycinuria with intellectual disability,True
11830,lissencephaly due to LIS1 mutation,True
9857,persistent Mullerian duct syndrome,True
7051,acromegaloid facial appearance syndrome,True
32928,"T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant",True
14150,childhood onset epileptic encephalopathy,True
32798,"ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features",True
7795,mullerian duct anomalies-limb anomalies syndrome,True
10233,"heterotopia, periventricular, X-linked dominant",True
9493,Richards-Rundle syndrome,True
8007,tooth ankylosis,True
14857,"neurodevelopmental disorder with or without anomalies of the brain, eye, or heart",True
11209,progeroid facial appearance with hand anomalies,True
7356,Lynch syndrome 1,True
11399,alpha thalassemia,True
8046,autosomal dominant myoglobinuria,True
9156_23052,ectrodactyly-polydactyly syndrome,True
10367,SHOX-related short stature,True
10455,"X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia",True
10805,bladder exstrophy (disease),True
9256,galactorrhea (disease),True
8245,piebald trait-neurologic defects syndrome,True
8420,seborrheic keratosis,True
8084,"neuropathy, congenital, with arthrogryposis multiplex",True
12462,autosomal recessive frontotemporal pachygyria,True
12750,lethal arthrogryposis-anterior horn cell disease syndrome,True
12496,Koolen de Vries syndrome,True
9867,lethal congenital glycogen storage disease of heart,True
7406,"cryofibrinogenemia, familial primary",True
9779,autosomal recessive omodysplasia,True
8017,hereditary mucoepithelial dysplasia,True
10757,widow's peak syndrome,True
9595,cartilage-hair hypoplasia,True
10840,pachygyria-intellectual disability-epilepsy syndrome,True
12387,osteosclerosis-ichthyosis-premature ovarian failure syndrome,True
7679,GMS syndrome,True
12104_19599_19193_20089_27767_19194,lipodystrophy,True
12052,ALG1-CDG,False
8124,"omphalocele, autosomal",True
7598,"factors VIII, IX and XI, combined deficiency of",True
13614,hypertelorism-preauricular sinus-punctual pits-deafness syndrome,True
12725,lipoprotein glomerulopathy,True
10156,Troyer syndrome,True
7771,"hyperpigmentation with or without hypopigmentation, familial progressive",True
14402,severe neurodegenerative syndrome with lipodystrophy,True
14119,intellectual disability-strabismus syndrome,True
8714,acrofacial dysostosis Rodriguez type,True
32703,"short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis",True
7036,Achard syndrome,True
10628,"immunoglobulin M, level of",True
10080_16394_15518,infantile bilateral striatal necrosis,True
11581,arrhythmogenic cardiomyopathy with woolly hair and keratoderma,True
9643_9644_14212_20480,sulfite oxidase deficiency due to molybdenum cofactor deficiency,True
9686,"musk, inability to smell",True
8836,ataxia with myoclonic epilepsy and presenile dementia,True
8380_3075,retinoblastoma,True
12383,primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency,True
13840,encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome,True
8441,spastic paraplegia with associated extrapyramidal signs,True
11430,pulverulent cataract,True
14320,optic atrophy-intellectual disability syndrome,True
10732,spastic paraparesis-deafness syndrome,True
13368,mammary-digital-nail syndrome,True
11080,progressive deafness with stapes fixation,True
8443,spastic paraplegia-precocious puberty syndrome,True
11208,malignant atrophic papulosis,True
8488,holoprosencephaly-radial heart renal anomalies syndrome,True
9170,endocardial fibroelastosis and coarctation of abdominal aorta,True
10106,"testes, rudimentary",True
7983,Schmid metaphyseal chondrodysplasia,True
12118,COG7-CDG,False
7148,"appendicitis, proneness to",True
11964,DPAGT1-CDG,False
10528,anosmia (disease),True
8711,Goodman syndrome,True
60583,platelet abnormalities with eosinophilia and immune-mediated inflammatory disease,True
10470,Baratela-Scott syndrome,True
10654,Partington syndrome,True
13053,"microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type",True
9324,Hartnup disease,True
9463,"internal carotid arteries, hypoplasia of",True
10025,short stature-obesity syndrome,True
8205_17472_17473,patella aplasia/hypoplasia,True
24529,MVP1,False
20643,autism susceptibility 1,True
9383,transient familial neonatal hyperbilirubinemia,True
9336,"hemosiderosis, pulmonary, with deficiency of gamma-a globulin",True
32936,"myopathy, congenital, with respiratory insufficiency and bone fractures",True
10514,combined immunodeficiency due to moesin deficiency,True
10798,proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome,True
9861_19259_16366_19258,phenylketonuria,True
7766,Morgagni-Stewart-Morel syndrome,True
11468,"hereditary motor and sensory neuropathy, Okinawa type",True
32925,"respiratory papillomatosis, juvenile recurrent, congenital",True
7388,congenitally short costocoracoid ligament,True
9923,"46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency",True
7833,"iris pigment layer, cleavage of",True
9434,"hypoproteinemia, hypercatabolic",True
8710,RAB23-related Carpenter syndrome,True
11698,glycine N-methyltransferase deficiency,True
14839,"chorea, childhood-onset, with psychomotor retardation",True
60758,"spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits",True
10637,"keratosis follicularis spinulosa decalvans, X-linked",True
7457,"diastema, dental medial",True
60491,neurodevelopmental disorder with involuntary movements,True
40501,"ehlers-danlos syndrome, arthrochalasia type, 2",True
7292,celiac artery stenosis from compression by median arcuate ligament of diaphragm,True
11835,sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome,True
32926,sandestig-stefanova syndrome,True
8713,acrodermatitis enteropathica,True
7053,restless legs syndrome 1,True
32575,diarrhea 9,False
7907,lipoma of the conjunctiva,True
33547,Li-Ghorbani-Weisz-Hubshman syndrome,True
7597,"factor VIII and Factor IX, combined deficiency of",True
9244,"Freesia Flowers, inability to smell",True
9128,"dwarfism, intellectual disability, and eye abnormality",True
13018,"keratosis follicularis spinulosa decalvans, autosomal dominant",True
7498,ear exostoses,True
9039,Baller-Gerold syndrome,True
902,agenesis of the corpus callosum with peripheral neuropathy,True
11933,ALG2-CDG,False
8625,"urate-binding globulin, decrease 1N",True
7074,ainhum (disease),True
14787,severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome,True
7837,Johnson neuroectodermal syndrome,True
8425,"omphalocele syndrome, Shprintzen-Goldberg type",True
13238,chromosome 17q23.1-q23.2 deletion syndrome,True
8974,Greenberg dysplasia,True
7112,interventricular septum aneurysm,True
32655,visual impairment and progressive phthisis bulbi,True
26733,"intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type",True
8773,"amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis",True
8467,Czeizel-Losonci syndrome,True
9949,pyruvate carboxylase deficiency disease,True
9284,glutathione synthetase deficiency without 5-oxoprolinuria,True
7211,brachydactyly-arterial hypertension syndrome,True
10799,aminoglycoside-induced deafness,True
13662,Barrett esophagus,True
14994,"global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies",True
32677,lissencephaly 9 with complex brainstem malformation,True
9509,Landau-Kleffner syndrome,True
11566,abdominal obesity-metabolic syndrome quantitative trait locus 2,True
7958_17896,familial thyroid carcinoma,True
7880,congenital laryngeal web,True
8392,Roussy-Levy syndrome,True
9476,atresia of small intestine,True
7547,epidermoid cysts,True
8918,carnitine-acylcarnitine translocase deficiency,True
9900,polysyndactyly-cardiac malformation syndrome,True
33544,Tolchin-Le Caignec syndrome,True
10522,X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2,True
32877,neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures,True
8321,"pruritus, hereditary localized",True
10703,ornithine carbamoyltransferase deficiency,True
14424,congenital deficiency in alpha-fetoprotein,True
10560,"cleft palate with or without ankyloglossia, X-linked",True
7710,facial hemiatrophy,True
8623,Undritz anomaly,True
10792,lethal infantile mitochondrial myopathy,True
7336,isolated cleft palate,True
8983,chromosomal instability with tissue-specific radiosensitivity,True
7500,ear malformation,True
12853,"progeroid syndrome, Petty type",True
13857,"alar cleft, isolated",True
11412,familial encephalopathy with neuroserpin inclusion bodies,True
10517,"ciliary dyskinesia, primary, 36, X-linked",True
13787,"psychomotor retardation, epilepsy, and craniofacial dysmorphism",True
8781_17593,juvenile amyotrophic lateral sclerosis,True
7953,binder syndrome,True
14766,leukodystrophy and acquired microcephaly with or without dystonia;,True
8744,alar cartilages hypoplasia-coloboma-telecanthus syndrome,True
14013,maternal riboflavin deficiency,True
14742_11220,"parkinson disease, autosomal dominant",True
7416,Balkan nephropathy,True
100285,extrahepatic biliary atresia,True
9707,myopathy with giant abnormal mitochondria,True
8931,Cenani-Lenz syndactyly syndrome,True
9533,Dahlberg-Borer-Newcomer syndrome,True
8385,rhiny,False
13970,branched-chain keto acid dehydrogenase kinase deficiency,True
13571,acatalasia,False
10518,Wiskott-Aldrich syndrome,True
9903,postaxial acrofacial dysostosis,True
9934,congenital alveolar capillary dysplasia,True
32842,siddiqi syndrome,True
13672,chromosome 15q25 deletion syndrome,True
60677,chromosome 1p35 deletion syndrome,True
6761,fibromuscular dysplasia,True
8081,"neurofibromatosis, type IV, of Riccardi",True
10077,spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome,True
13357,"chromosome 17q11.2 deletion syndrome, 1.4Mb",True
7845,"Kaposi sarcoma, susceptibility to",True
10918,EIG1,False
9450,ciliary dyskinesia with excessively long cilia,True
10224,corpus callosum agenesis-abnormal genitalia syndrome,True
8884,oculoosteocutaneous syndrome,True
14464,progressive encephalopathy with leukodystrophy due to DECR deficiency,True
14389,polyglucosan body myopathy 1 with or without immunodeficiency,True
32579,warburg-cinotti syndrome,True
9481,Jumping Frenchmen of Maine,True
7715,hemolytic poikilocytic anemia due to reduced ankyrin binding sites,True
34121,NAD(P)HX dehydratase deficiency,True
7400,Jackson-Weiss syndrome,True
9648,peripheral motor neuropathy-dysautonomia syndrome,True
13600,insomnia (disease),True
9027,"cramps, familial adolescent",True
32681,"encephalopathy, progressive, early-onset, with episodic rhabdomyolysis",True
10177,retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome,True
14263,8q24.3 microdeletion syndrome,True
32830,snijders blok-fisher syndrome,True
7949,Marshall syndrome,True
8094,familial multiple nevi flammei,True
14863,"macrocephaly, dysmorphic facies, and psychomotor retardation",True
7788,"hypertriglyceridemia, familial",True
7170,atresia of external auditory canal and conductive deafness,True
8177,extramammary Paget disease,True
7376,fleck corneal dystrophy,True
11887,"cataract, congenital, with mental impairment and dentate gyrus atrophy",True
14347,short stature with microcephaly and distinctive facies,True
8932,premature centromere division,True
7374,Schnyder corneal dystrophy,True
9994_2978,alveolar rhabdomyosarcoma,True
7869,Kyrle disease,True
9159,"Ehlers-Danlos syndrome, cardiac valvular type",True
12165,BNAR syndrome,True
8402,cleft palate-large ears-small head syndrome,True
10681,myelolymphatic insufficiency,True
9896,"polymyoclonus, infantile",True
13534,apolipoprotein c-III deficiency,True
11806,osteofibrous dysplasia,True
12342,7q11.23 microduplication syndrome,True
11176,intestinal hypomagnesemia 1,True
10127_6456_16974_16975_2588_6458_6459,thymoma,False
10415_10414,"myopathy, reducing body, X-linked",True
10981,absent tibia-polydactyly-arachnoid cyst syndrome,True
11152,PHGDH deficiency,True
10653,Renpenning syndrome,True
32820,neurodevelopmental disorder with structural brain anomalies and dysmorphic facies,True
8659,transcobalamin I deficiency,True
8439,spastic paraplegia-epilepsy-intellectual disability syndrome,True
32648,mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations,True
14195,microcornea-myopic chorioretinal atrophy,True
7337,cleft palate-lateral synechia syndrome,True
10545,Nance-Horan syndrome,True
30030,Nizon-Isidor syndrome,True
15014,"coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness",True
9419,Woodhouse-Sakati syndrome,True
8608,Down syndrome,True
30069,"hyper-IgE recurrent infection syndrome 5, autosomal recessive",True
43364,eosinophil peroxidase deficiency,True
14707,14q32 duplication syndrome,True
9130,Dyggve-Melchior-Clausen disease,True
32934,genitourinary and/or brain malformation syndrome,True
8066,"nasal hyperpigmentation, familial transverse",True
10691,Norrie disease,True
8154,osteomas of mandible,True
14500,atrial conduction disease,True
7914,"lumbar stenosis, familial",True
14421,glucocorticoid resistance,True
8834,"asthma, nasal polyps, and aspirin intolerance",True
7166,ataxia with fasciculations,True
9114,congenital sucrase-isomaltase deficiency,True
9952,radioulnar synostosis-developmental delay-hypotonia syndrome,True
14043,microcephalic primordial dwarfism due to ZNF335 deficiency,True
10332,X-linked intellectual disability-cubitus valgus-dysmorphism syndrome,True
13615,craniosynostosis and dental anomalies,True
7352,renal coloboma syndrome,True
10537,Borjeson-Forssman-Lehmann syndrome,True
8619,ulna metaphyseal dysplasia syndrome,True
9885,Scott syndrome,True
12105_15943_2341,granulomatosis with polyangiitis,True
7064,adenosine deaminase deficiency,True
10014,"craniometadiaphyseal dysplasia, wormian bone type",True
8684,Wolf-Hirschhorn syndrome,True
10872,"parotid salivary glands, polycystic dysgenetic disease of",True
13825_824,congenital diarrhea,True
7820,fused mandibular incisors,True
33662,"neurodevelopmental disorder with microcephaly, seizures, and brain atrophy",True
9164,"encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts",True
9162,Ellis-van Creveld syndrome,True
8005,cardiospondylocarpofacial syndrome,True
8609,Tristichiasis,True
32935,rhizomelic limb shortening with dysmorphic features,True
8995,Yunis-Varon syndrome,True
13423,immunodeficiency due to MASP-2 deficiency,True
11734,Cardioneuromyopathy with hyaline masses and nemaline rods,True
9007,Jalili syndrome,True
10968,"glaucoma 3, primary infantile, B",True
7100,familial amyloid neuropathy,True
7946,jaw-winking syndrome,True
8687,Woronets trait,True
15005,"epilepsy, early-onset, vitamin B6-dependent",True
10235,X-linked intellectual disability-psychosis-macroorchidism syndrome,True
9992,"myoglobinuria, acute recurrent, autosomal recessive",True
17991,Takayasu arteritis,True
8726,Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis,True
10554,Abruzzo-Erickson syndrome,True
9684,"muscular hypertonia, lethal",True
10269,Coats disease,True
9191,Lowry-Wood syndrome,True
8952,cerebrofaciothoracic dysplasia,True
8564,DiGeorge syndrome,True
56797,neurodevelopmental disorder with midbrain and hindbrain malformations,True
8988_16603_15991,citrullinemia,True
7577,"esophageal ring, lower",True
13873,IMAGe syndrome,True
12392,2-methylbutyryl-CoA dehydrogenase deficiency,True
9079,DOORS syndrome,True
8880,Bowen syndrome of multiple malformations,True
8079,neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome,True
10134,Pendred syndrome,True
8914,cardioauditory syndrome of Sanchez Cascos,True
7512,ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet,True
10816,Qazi Markouizos syndrome,True
11684,vitiligo-associated multiple autoimmune disease susceptibility 1,True
12291,immunoglobulin A deficiency 2,True
12999,guanidinoacetate methyltransferase deficiency,True
7901,levator-medial rectus synkinesis,True
11988,neutrophil immunodeficiency syndrome,True
8950,cerebral sclerosis similar to Pelizaeus-Merzbacher disease,True
10679,Duchenne muscular dystrophy,True
44312,immunoskeletal dysplasia with neurodevelopmental abnormalities,True
14893,Okur-Chung neurodevelopmental syndrome,True
8445,delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome,True
7558,benign occipital epilepsy,True
8218,Hailey-Hailey disease,True
10473,X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome,True
9274,ghosal hematodiaphyseal dysplasia,True
14271,STT3B-CDG,False
32894,"neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy",True
9174,protein-losing enteropathy (disease),True
33555,immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia,True
14249,multiple fibroadenoma of the breast,True
13036,Zechi-Ceide syndrome,True
9978,retinal degeneration-nanophthalmos-glaucoma syndrome,True
8248,pigmented purpuric eruption,True
11116,lung agenesis-heart defect-thumb anomalies syndrome,True
7680,multinodular goiter-cystic kidney-polydactyly syndrome,True
8358,radial ray hypoplasia-choanal atresia syndrome,True
12209,branchiogenic deafness syndrome,True
11790,Amish lethal microcephaly,True
7955_954_4551,Meckel diverticulitis,True
32661,"neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia",True
9311,grouped pigmentation of the retina,True
100249_16281_17576,"46,XX disorder of sex development",True
18334,chronic hiccup,True
16479,silver-Russell syndrome due to 7p11.2p13 microduplication,True
15367,Charlie M syndrome,True
16043,isolated cleft lip,True
18309,Hirschsprung disease,True
16480,silver-Russell syndrome due to an imprinting defect of 11p15,True
16482,silver-Russell syndrome due to maternal uniparental disomy of chromosome 11,True
16481,silver-Russell syndrome due to 11p15 microduplication,True
16044_16064,cleft lip/palate,True
12282,Al-Gazali syndrome,True
16364,Joubert syndrome with ocular defect,True
11499,Okamoto syndrome,True
18305,chronic granulomatous disease,True
18101,familial primary hypomagnesemia with normocalciuria and normocalcemia,True
16748,hemangioblastoma,True
11979,adult-onset foveomacular vitelliform dystrophy,True
16474,drug-induced lupus erythematosus,True
18166,oral submucous fibrosis,True
15100,aregenerative anemia,True
18298,multicentric osteolysis-nodulosis-arthropathy spectrum,True
11578,familial papillary thyroid carcinoma with renal papillary neoplasia,True
18580,PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome,True
463,Ochoa syndrome,True
19964_20516,thymic neuroendocrine tumor,True
18749,hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome,True
18103,Quinquaud's folliculitis decalvans,True
15099_17093,unilateral polymicrogyria,True
18044_16451_16452,idiopathic hypersomnia,True
18088,familial Mediterranean fever,True
18081,hemorrhagic fever-renal syndrome,True
20391,pulmonary artery coming from the aorta,True
11340,congenital tracheal stenosis,True
19313,hereditary lymphedema,True
19314_19023_2726,cutaneous mastocytosis,True
19315_17243,diffuse cutaneous mastocytosis,True
19316,maculopapular cutaneous mastocytosis,True
16456,5q14.3 microdeletion syndrome,True
18251,glycogen storage disease due to phosphorylase kinase deficiency,True
16457,ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome,True
100280,Waldenstrom macroglobulinemia,True
18177,glioblastoma (disease),True
16458,8q12 microduplication syndrome,True
15096_14452_16638,familial hypodysfibrinogenemia,True
19591_5152,hypopituitarism,True
19949,zebra body myopathy,True
16826,methylmalonic acidemia with homocystinuria,True
19139,acquired hemophilia,True
19951,rigid spine syndrome,True
15403_15404_18715_18716,congenital hemangioma,True
15094,subependymal nodular heterotopia,True
12155_15312_15313,choanal atresia,True
16358,limited cutaneous systemic sclerosis,True
18280,muscle-eye-brain disease with bilateral multicystic leucodystrophy,True
19137,non-24-hour sleep-wake syndrome,True
16453,foodborne botulism,True
15802_19502_509,non-syndromic intellectual disability,True
17909,inherited glutathione synthetase deficiency,True
19945_6599,urticaria,False
15093,sub-cortical nodular heterotopia,True
15749,6q16 deletion syndrome,True
20527,ectopic Cushing syndrome,True
18025,chronic actinic dermatitis,True
8891,riboflavin transporter deficiency,True
18029,congenital factor XIII deficiency,True
18710,megalencephaly-severe kyphoscoliosis-overgrowth syndrome,True
18442,acitretin/etretinate embryopathy,True
20524,primary parathyroid hyperplasia,True
15317,laryngotracheal angioma,True
15027,familial isolated hyperparathyroidism,True
5361_5407,eosinophilic esophagitis,True
19944,Eisenmenger syndrome,True
19133,visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome,True
20523,familial parathyroid adenoma,True
19132,spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome,True
5508,hereditary multiple osteochondromas,True
19136,Zygomycosis,True
15028,"48,XXYY syndrome",True
17904,steroid dehydrogenase deficiency-dental anomalies syndrome,True
15228,pentasomy X,True
18633,20q11.2 microdeletion syndrome,True
19497,nonsyndromic genetic deafness,True
18711,intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome,True
17858,acute erythroid leukemia,True
6451,thymic carcinoma,True
17787,erythroderma desquamativum,True
17778,lamellar ichthyosis,True
44621,16p12.1p12.3 triplication syndrome,True
19134,central neurocytoma,True
17836,erythrokeratoderma en cocardes,True
6976,somatostatinoma,True
19963,bronchial endocrine tumor,True
19962,thyroid lymphoma,True
18248,intellectual disability-seizures-macrocephaly-obesity syndrome,True
19959,glucagonoma,True
15752,intellectual disability-cataracts-kyphosis syndrome,True
10575,deafness-hypogonadism syndrome,True
17864,congenital pulmonary veins atresia or stenosis,True
17865,congenital pulmonary valve stenosis,True
5048,pancreatic insulin-producing neuroendocrine tumor,True
19957,PPoma,False
18019,lead poisoning,True
18277,congenital muscular dystrophy with cerebellar involvement,True
17852,infantile spasms-broad thumbs syndrome,True
17856,X-linked spasticity-intellectual disability-epilepsy syndrome,True
17218,septopreoptic holoprosencephaly,True
17857,spina bifida-hypospadias syndrome,True
18020,mercury poisoning,True
19955,GRFoma,False
17844,Sezary syndrome,True
15803,wound botulism,True
15804,infant botulism,True
19414,BRESEK syndrome,True
15751,craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome,True
17850,sirenomelia,True
18273,XYLT1-CDG,False
17837,multiple sclerosis-ichthyosis-factor VIII deficiency syndrome,True
15806_15805,intestinal botulism,True
10527,microphthalmia-ankyloblepharon-intellectual disability syndrome,True
12907,blindness - scoliosis - arachnodactyly syndrome,True
19111,familial thrombocytosis,True
19375,megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome,True
18976,schisis association,True
18854,acquired purpura fulminans,True
18929,medial condensing osteitis of the clavicle,True
20497,Turcot syndrome with polyposis,True
19810,toxic epidermal necrolysis,True
17983_19782_17548_17549_17550_17551_17552_17553,humero-radio-ulnar synostosis,True
17984,familial lambdoid synostosis,True
11320,radioulnar synostosis-microcephaly-scoliosis syndrome,True
19791,recessive mitochondrial ataxia syndrome,True
18873,anterior cutaneous nerve entrapment syndrome,True
18658,19p13.3 microduplication syndrome,True
19371,narcolepsy without cataplexy,True
19373,desmoplastic small round cell tumor,True
19372,solitary bone cyst,True
19374,CAMOS syndrome,True
15307,Madras motor neuron disease,True
19164,6q terminal deletion syndrome,True
20492,hemimegalencephaly,True
20493,Haddad syndrome,True
17924,central nervous system calcification-deafness-tubular acidosis-anemia syndrome,True
19370,vulvovaginal gingival syndrome,True
19369_11441_20572,complex regional pain syndrome,True
19344,antisynthetase syndrome,True
8803,Antley-Bixler syndrome,True
19391,Fanconi anemia,True
20380_19792_19793_19794_16163,autosomal dominant cerebellar ataxia,True
19803,angioma serpiginosum,True
19802,secondary short bowel syndrome,True
19367,regional odontodysplasia,True
16674_10765,"46,XY gonadal dysgenesis",True
11429_19433,juvenile idiopathic arthritis,True
19028,amoebiasis due to Entamoeba histolytica,True
19036,amoebiasis due to free-living amoebae,True
19131,ossification anomalies-psychomotor developmental delay syndrome,True
18965,Alport syndrome,True
9325,deafness-enamel hypoplasia-nail defects syndrome,True
19828,pituitary stalk interruption syndrome,True
20505,ravine syndrome,True
17920,deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome,True
17921,hearing loss-familial salivary gland insensitivity to aldosterone syndrome,True
19130,tubular renal disease-cardiomyopathy syndrome,True
19129,global developmental delay-osteopenia-ectodermal defect syndrome,True
13099,"combined pituitary hormone deficiencies, genetic form",True
19143,angiostrongyliasis,True
17623,PTEN hamartoma tumor syndrome,True
18801,congenital bilateral absence of vas deferens,True
18598,neonatal adrenoleukodystrophy,True
18846_17967,penile/testicular agenesis,True
17918,white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome,True
18632,11q22.2q22.3 microdeletion syndrome,True
20503,resistance to thyrotropin-releasing hormone syndrome,True
7318,Alagille syndrome,True
20501,Crimean-Congo hemorrhagic fever,True
15458,intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome,True
5502,dengue disease,True
20502,yellow fever,True
5820,Lassa fever,True
20499,Nipah virus disease,True
20500,Marburg hemorrhagic fever,True
15787_15788,symptomatic form of hemophilia in female carriers,True
15784_15783,Prader-Willi syndrome due to paternal deletion of 15q11q13,True
15453,Cogan syndrome,True
8926,COFS syndrome,True
15449,criss-cross heart,True
18740,drug-induced methemoglobinemia,True
17200,polycystic ovaries-urethral sphincter dysfunction syndrome,True
9799,pachydermoperiostosis,True
15786,Prader-Willi syndrome due to imprinting mutation,True
15445,autosomal dominant coarctation of aorta,True
15443,chromosome 8-derived supernumerary ring/marker,True
15785,Prader-Willi syndrome due to translocation,True
17199,osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome,True
6602,porokeratosis (disease),True
18394,male infertility with teratozoospermia due to single gene mutation,True
15437,ring chromosome 21,True
17197,osteopathia striata-pigmentary dermopathy-white forelock syndrome,True
9092,Nasu-Hakola disease,True
17196,osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome,True
15441,ring chromosome 7,True
15440,ring chromosome 6,True
15439,ring chromosome 4,True
15438,ring chromosome 22,True
17792,7p22.1 microduplication syndrome,True
18569,X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome,True
18568,COG2-CDG,False
18748,linear IgA Dermatosis,True
18746,mucous membrane pemphigoid,True
15428,choroidal atrophy-alopecia syndrome,True
9801,"familial osteodysplasia, Anderson type",True
19801_15128_43370,adrenal insufficiency,True
15432,ring chromosome 12,True
15431,ring chromosome 10,True
15430,ring chromosome 1,True
18393,male infertility with azoospermia or oligozoospermia due to single gene mutation,True
16214,pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome,True
15425,lethal recessive chondrodysplasia,True
17162,imperforate oropharynx-costo vetebral anomalies syndrome,True
18182,bullous impetigo,True
18183_5970,staphylococcal pneumonia,True
1595,choreatic disease,True
1881,toxic shock syndrome,True
11810,horizontal gaze palsy with progressive scoliosis,True
17138,Opitz G/BBB syndrome,True
16356,diffuse cutaneous systemic sclerosis,True
18927,SUNCT syndrome,True
33682,skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome,True
20460,acquired von willebrand syndrome,True
15465,craniometaphyseal dysplasia,True
15464,craniofrontonasal dysplasia-Poland anomaly syndrome,True
8756,alopecia - intellectual disability syndrome,True
15466,cranio-osteoarthropathy,True
33683,congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome,True
18899,posterior cortical atrophy,True
16899,Duchenne and Becker muscular dystrophy,True
17928,9p13 microdeletion syndrome,True
19597,"46,XY disorder of sex development due to isolated 17,20-lyase deficiency",True
24252,global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome,True
17301,pericardial and diaphragmatic defect,True
18900,corticosteroid-sensitive aseptic abscess syndrome,True
15463,craniodigital syndrome-intellectual disability syndrome,True
9028,Crane-Heise syndrome,True
17285,penoscrotal transposition (disease),True
17575,mitochondrial neurogastrointestinal encephalomyopathy,True
17219,microform holoprosencephaly,True
17453,fetal parvovirus syndrome,True
18051,Jessner lymphocytic infiltration of the skin,True
17409,fetal cytomegalovirus syndrome,True
17572,tick-borne encephalitis,True
19880,distal trisomy 5q,True
17372,congenital varicella syndrome,True
17361,congenital rubella syndrome,True
17381_42971,congenital herpes virus infection,True
17375,congenital enterovirus infection,True
19876,8p inverted duplication/deletion syndrome,True
18216,17q21.31 microdeletion syndrome,True
17281,renal caliceal diverticuli-deafness syndrome,True
15462,thin ribs-tubular bones-dysmorphism syndrome,True
15461,short rib-polydactyly syndrome,True
6639,adrenal cortex carcinoma,True
17319,hereditary elliptocytosis,True
17282,alveolar echinococcosis,True
17314,"Ehlers-Danlos syndrome, vascular type",True
17275,spastic paraplegia-facial-cutaneous lesions syndrome,True
20435,"atrial septal defect, coronary sinus type",True
20436,"atrial septal defect, sinus venosus type",True
20437,"atrial septal defect, ostium primum type",True
7473,Duane retraction syndrome,True
16472,dracunculiasis,True
19625_17311,thoracic aortic aneurysm and aortic dissection,True
16416,diphallia,False
16379,erosive pustular dermatosis of the scalp,True
16383,nephrogenic diabetes insipidus,True
17225,null syndrome,True
18370,KLHL9-related early-onset distal myopathy,True
17224,Pelizaeus-Merzbacher disease in female carriers,True
16812,dopa-responsive dystonia,True
17581,familial infantile gigantism,True
18053,trichothiodystrophy,True
16619_16535_15884,hypohidrotic ectodermal dysplasia,True
16445,familial anetoderma,True
17582,pituitary adenocarcinoma (disease),True
18168_19033_18167,cutis verticis gyrata,True
16529,duplication of urethra,True
16526,trisomy 9p,False
16439,elastoderma,True
19978,Robinow syndrome,True
16782,paternal 14q32.2 hypomethylation syndrome,True
16783,maternal 14q32.2 hypermethylation syndrome,True
16039,infantile digital fibromatosis,True
17376,reactive arthritis,True
16780,paternal 14q32.2 microdeletion syndrome,True
16781,maternal 14q32.2 microdeletion syndrome,True
15745,microcephaly-polymicrogyria-corpus callosum agenesis syndrome,True
1945,postencephalitic Parkinson disease,True
16239,cystinosis,False
19973,persistent placoid maculopathy,True
16036,Ledderhose disease,True
16779,multiple congenital anomalies due to 14q32.2 maternally expressed gene defect,True
16778,iatrogenic botulism,True
18825,PYCR2-related microcephaly-progressive leukoencephalopathy,True
19969,panner disease,True
4241,Osgood-Schlatter disease,True
16079_18686_6518_34976,Creutzfeldt-Jakob disease,True
19970,Sinding-Larsen-Johansson disease,True
16067,Crandall syndrome,True
19967,Kienbock disease,True
5979,thoracic outlet syndrome,True
16988,hyperinsulinism due to HNF4A deficiency,True
15796,acute lung injury,True
16777,inhalational botulism,True
19012,Carpenter syndrome,True
15388,polyrrhinia,True
20434,"atrial septal defect, ostium secundum type",True
15800,osteosclerosis-developmental delay-craniosynostosis syndrome,True
7671,fibronectin glomerulopathy,True
15389,supernumerary nostril,True
19867,mosaic trisomy 8,True
18175,combined deficiency of factor V and factor VIII,True
19395,Hinman syndrome,True
5526,tetanus,False
17989,His bundle tachycardia,True
16205,IRVAN syndrome,True
17580,11p15.4 microduplication syndrome,True
16981,infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome,True
9105,tricho-hepato-enteric syndrome,True
18071,trisomy 18,False
19383,acute disseminated encephalomyelitis,True
23201,Fryns Smeets Thiry syndrome,True
5459,human African trypanosomiasis,True
1444,Chagas disease,True
18076,tuberculosis,True
18891,familial tumoral calcinosis,True
16080,congenital bronchobiliary fistula,True
18892,Wyburn-Mason syndrome,True
25667,limbal stem cell deficiency,True
23171,foix chavany Marie syndrome,True
20550,gestational choriocarcinoma,True
16083,FLOTCH syndrome,True
6248_20549_16785,hydatidiform mole,True
20552,placental site trophoblastic tumor,True
18066,trisomy X,False
18067,triploidy,False
18205,distal monosomy 1q,True
18068,trisomy 13,False
18069,distal trisomy 17q,True
20547_13730,graft versus host disease,True
18835,nodular regenerative hyperplasia of the liver,True
6614,subcorneal pustular dermatosis,True
9930,pulmonary arteriovenous malformation (disease),True
5761,filarial elephantiasis,True
18065,isolated trigonocephaly,True
16203,hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency,True
16071,juvenile hyaline fibromatosis,True
16070,hereditary gingival fibromatosis,True
2142,undifferentiated pleomorphic sarcoma,True
18061,trichodermodysplasia-dental alterations syndrome,True
18876_6430,mantle cell lymphoma,True
19429,"X-linked neurodegenerative syndrome, Hamel type",True
19430,X-linked intellectual disability-ataxia-apraxia syndrome,True
19427,"X-linked neurodegenerative syndrome, Bertini type",True
18955,recurrent respiratory papillomatosis,True
19428,fried syndrome,True
18956,idiopathic bronchiectasis,True
16066,sternal cleft,True
16065,cleft palate-short stature-vertebral anomalies syndrome,True
17995,spondylocostal dysostosis-hypospadias-intellectual disability syndrome,True
5580,esophageal squamous cell carcinoma,True
3345,hilar cholangiocarcinoma,True
18058,tracheal agenesis,True
9221,femur-fibula-ulna complex,True
5028_3186_3550,esophageal adenosquamous carcinoma,True
5103,well-differentiated liposarcoma,True
19425,X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome,True
18877,retinitis punctata albescens,True
16865,Kleefstra syndrome due to a point mutation,True
16060_19764_17220_19761_19762_19763,laryngotracheoesophageal cleft,True
16059,cleft lip/palate-deafness-sacral lipoma syndrome,True
20560,atypical teratoid rhabdoid tumor,True
20561,myxoid/round cell liposarcoma,True
18052,hypoplastic tibiae-postaxial polydactyly syndrome,True
20562,pleomorphic liposarcoma,True
7600,primary Fanconi syndrome,True
18893,Cobb syndrome,True
19418,X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome,True
19416,X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome,True
18050,tibial aplasia-ectrodactyly syndrome,True
19419,X-linked intellectual disability-macrocephaly-macroorchidism syndrome,True
18045,Hoyeraal-Hreidarsson syndrome,True
18048,heparin-induced thrombocytopenia (disease),True
18043,Thomas syndrome,True
16647,autosomal recessive Stickler syndrome,True
18112,isolated scaphocephaly,True
18034,thalidomide embryopathy,True
18113,isolated plagiocephaly,True
18114,isolated brachycephaly,True
18026,tetraploidy syndrome,True
19115,obesity due to melanocortin 4 receptor deficiency,True
10110,tetraamelia-multiple malformations syndrome,True
19603,osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome,True
11248,distal monosomy 13q,True
15562,distal monosomy 17q,True
15565,cap polyposis,True
19330,pili gemini,True
11055,distal monosomy 10p,True
34099,SYNGAP1-related developmental and epileptic encephalopathy,True
19323,pemphigus erythematosus,True
19324,pemphigus foliaceus,True
15546,non-distal monosomy 10q,True
19112,cancer-associated retinopathy,True
17337,inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency,True
19113,benign paroxysmal torticollis of infancy,True
19114,psychogenic movement disorders,True
15517,common variable immunodeficiency,True
15516_17520,symbrachydactyly of hands and feet,True
5055,Kaposi's sarcoma (disease),True
19321,atypical Werner syndrome,True
16176_16171,polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy,True
7119,isolated aniridia,True
15484,cysticercosis,True
17321,pili torti-onychodysplasia syndrome,True
18217,Koolen-de Vries syndrome due to a point mutation,True
16354,xeroderma pigmentosum-Cockayne syndrome complex,True
9859,PHAVER syndrome,True
15474,cryptosporidiosis,True
15473,cryptorchidism-arachnodactyly-intellectual disability syndrome,True
19839,panhypophysitis,True
5724,cryptococcosis,True
17318,phakomatosis pigmentovascularis,True
19838,adenohypophysitis,True
17315,short stature-webbed neck-heart disease syndrome,True
17316,short stature-deafness-neutrophil dysfunction-dysmorphism syndrome,True
8499,short stature-wormian bones-dextrocardia syndrome,True
17177,hemihyperplasia-multiple lipomatosis syndrome,True
15515,carnitine palmitoyltransferase II deficiency,True
15470,familial isolated dilated cardiomyopathy,True
17340,juvenile nasopharyngeal angiofibroma (disease),True
6363,peritoneal multicystic mesothelioma,True
5512,malignant peritoneal mesothelioma,True
19771,oromandibular dystonia,True
15454,multiple carboxylase deficiency,True
8867,biliary atresia,True
19336,Gardner syndrome,True
3582,hereditary breast ovarian cancer syndrome,True
5835,Lynch syndrome,True
18056_6572_16767_43923_16769_16770,lichen planus,True
17780,20p13 microdeletion syndrome,True
18055,pediatric hepatocellular carcinoma,True
6468,thyroid gland undifferentiated (anaplastic) carcinoma,True
15686,primary peritoneal carcinoma (disease),True
19767,hamel cerebro-palato-cardiac syndrome,True
19768,"X-linked intellectual disability, Golabi-Ito-hall type",True
15766,cholera,False
16775,lichen planus pemphigoides,True
8686,isolated familial woolly hair disorder,True
15762_17290_18804,familial intrahepatic cholestasis,True
19759,epispadias (disease),True
15564,Castleman disease,True
17932,muscular hypertrophy-hepatomegaly-polyhydramnios syndrome,True
19758,midline interhemispheric variant of holoprosencephaly,True
19757,alobar holoprosencephaly,True
20466,monosomy X,False
18271,peripheral primitive neuroectodermal tumor,True
20467,mosaic monosomy X,True
5661,babesiosis,False
19526,erythema elevatum diutinum,True
15195,atresia of urethra (disease),True
7029,branchio-oto-renal syndrome,True
17230,autosomal semi-dominant severe lipodystrophic laminopathy,True
44720,cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome,True
17584,Sagliker syndrome,True
15261,pseudopelade of Brocq,True
18376_18375,avascular necrosis,True
18684,idiopathic neonatal atrial flutter,True
18856,lichen amyloidosis,True
18059_5373,meningococcal infection,True
17232,recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome,True
5706,coccidioidomycosis,True
19896,Kleefstra syndrome due to 9q34 microdeletion,True
19897,distal monosomy 12q,True
17233_100087,familial Alzheimer disease,True
20304_20305,isochromosomy,True
20301,Prader-Willi syndrome due to paternal 15q11q13 deletion,True
20302,Angelman syndrome due to maternal 15q11q13 deletion,True
20303,Angelman syndrome due to paternal uniparental disomy of chromosome 15,True
12580_1437_18483,pulmonary alveolar proteinosis,True
19891,monosomy 22,True
19893,distal monosomy 19p13.3,True
19399,Isaac syndrome,True
16425,Hughes-Stovin syndrome,True
16426,fusariosis,False
8741,PAGOD syndrome,True
19921,paternal uniparental disomy of chromosome 6,True
19920,paternal uniparental disomy of chromosome 5,True
16509,microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome,True
6558,pemphigoid gestationis,True
11457_18266,ataxia - telangiectasia variant,True
20306,absent tibia-polydactyly syndrome,True
19150,familial isolated restrictive cardiomyopathy,True
20048,internal carotid agenesis,True
19915,maternal uniparental disomy of chromosome 14,True
19914,maternal uniparental disomy of chromosome 9,True
19913,silver-Russell syndrome due to maternal uniparental disomy of chromosome 7,True
19912,maternal uniparental disomy of chromosome 6,True
19911,maternal uniparental disomy of chromosome 4,True
19910,maternal uniparental disomy of chromosome 2,True
19148,Wolman disease,True
19907,ring chromosome 13,True
44643,congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome,True
18607,combined hamartoma of the retina and retinal pigment epithelium,True
19902,monosomy 13q34,True
15108,obsolete rare non-syndromic intellectual disability,True
19901,non-distal monosomy 20q,True
18968,iniencephaly,True
17160,behavioral variant of frontotemporal dementia,True
18371,nebulin-related early-onset distal myopathy,True
18969,craniorachischisis (disease),True
19149,cholesteryl ester storage disease,True
19434,systemic-onset juvenile idiopathic arthritis,True
16860,familial adenomatous polyposis due to 5q22.2 microdeletion,True
18002,adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy,True
13617,overgrowth-macrocephaly-facial dysmorphism syndrome,True
17161,frontotemporal dementia with motor neuron disease,True
17607,caudal regression sequence,True
12095,intellectual disability-brachydactyly-Pierre Robin syndrome,True
19432,rheumatoid factor-negative juvenile idiopathic arthritis,True
17640,cyanide-induced parkinsonism,True
44641,9q33.3q34.11 microdeletion syndrome,True
15599_4768_25431,keratoconjunctivitis,True
16596,hyperphosphatasia-intellectual disability syndrome,True
17638,manganese poisoning,True
17639,carbon monoxide-induced parkinsonism,True
17583,mirror polydactyly-vertebral segmentation-limbs defects syndrome,True
9945,pyridoxine-dependent epilepsy,True
16856,Mowat-Wilson syndrome due to a ZEB2 point mutation,True
17999,fatty acid hydroxylase-associated neurodegeneration,True
16595,inhalational anthrax,True
16411,hypothyroidism due to deficient transcription factors involved in pituitary development or function,True
10771,histiocytoid cardiomyopathy,True
16594,superficial siderosis,True
16855,Mowat-Wilson syndrome due to monosomy 2q22,True
16854,"49,XXXYY syndrome",True
19440_17810_18590,ABeta2M amyloidosis,True
19439,AA amyloidosis,True
15600,"X-linked intellectual disability, Cilliers type",True
44331_16408_19858_18612_16410_15792_16409,congenital hypothyroidism,True
15259,brachydactyly-mesomelia-intellectual disability-heart defects syndrome,True
16591,sporadic adult-onset ataxia of unknown etiology,True
16853,ring chromosome Y,True
20298,Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15,True
16852,paternal uniparental disomy of chromosome X,True
16824,myofibromatosis,True
19435,rheumatoid factor-positive polyarticular juvenile idiopathic arthritis,True
19436,psoriasis-related juvenile idiopathic arthritis,True
19437,enthesitis-related juvenile idiopathic arthritis,True
5498,botulism,False
8051,tubular aggregate myopathy,True
16851,maternal uniparental disomy of chromosome X,True
15299,Asherman syndrome,True
16822,myalgia-eosinophilia syndrome associated with tryptophan,True
16823,mycetoma,False
11424,Carney triad,True
19845,iatrogenic or traumatic pituitary deficiency,True
18227,hypocomplementemic urticarial vasculitis,True
6908,pituitary apoplexy,True
19388,pelvis syndrome,True
18425,Huntington disease-like syndrome due to C9ORF72 expansions,True
15252,severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome,True
15340,drug rash with eosinophilia and systemic symptoms,True
17630,X-linked complicated spastic paraplegia type 1,True
16819,Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome,True
19387,macrostomia-preauricular tags-external ophthalmoplegia syndrome,True
18229,Stevens-Johnson syndrome,True
12508,agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome,True
15347,multicentric reticulohistiocytosis,True
5846,microsporidiosis,True
10672,microphthalmia with linear skin defects syndrome,True
18304,Schnitzler syndrome,True
18428,9q31.1q31.3 microdeletion syndrome,True
19384,encephalitis lethargica,True
18123,intellectual disability-obesity-brain malformations-facial dysmorphism syndrome,True
43143,microphthalmia microtia fetal akinesia,True
15345,perioral myoclonia with absences,True
14720_20250_16646,autosomal dominant optic atrophy,True
18429,14q24.1q24.3 microdeletion syndrome,True
17636,hemiparkinsonism-hemiatrophy syndrome,True
11514,tricuspid atresia (disease),True
18115,epidermal nevus syndrome,True
1956,capillary leak syndrome,True
15987,scimitar syndrome,True
15908,chromomycosis,True
15348,leukoencephalopathy with bilateral anterior temporal lobe cysts,True
16760,"microcephaly-microcornea syndrome, Seemanova type",True
16750,microcephaly-cleft palate syndrome,True
16758,microcephaly-brain defect-spasticity-hypernatremia syndrome,True
15350,17q11.2 microduplication syndrome,True
16719,microcephaly-seizures-intellectual disability-heart disease syndrome,True
44700,SIN3A-related intellectual disability syndrome due to a point mutation,True
19846_15790,central diabetes insipidus,True
8716,acrogeria,False
100133,mitochondrial complex I deficiency,True
7477,3-M syndrome,True
19627_20194,congenital alacrima,True
16831_19319,verrucous nevus syndrome,True
16829,familial visceral myopathy,True
13393,distal 7q11.23 microdeletion syndrome,True
17782,developmental and speech delay due to SOX5 deficiency,True
7527,"Ehlers-Danlos syndrome, periodontitis type",True
17869,chondroectodermal dysplasia with night blindness,True
15339,adrenomyeloneuropathy,True
17934,aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome,True
20015,obsolete rare circulatory system disease,True
19153,brain malformation-congenital heart disease-postaxial polydactyly syndrome,True
18823,X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome,True
16765,19p13.12 microdeletion syndrome,True
18063,nodular non-suppurative panniculitis,True
18864,Kikuchi-Fujimoto disease,True
13182,chromosome 17p13.3 duplication syndrome,True
18669,snakebite envenomation,True
18668,scedosporiosis,True
17936,benign Samaritan congenital myopathy,True
17935,hyperinsulinism due to HNF1A deficiency,True
20693,glycogen storage disease due to liver phosphorylase kinase deficiency,True
18848,IgG4-related retroperitoneal fibrosis,True
19506,obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome,True
15634,isolated osteopoikilosis,True
13298,chromosome 17q21.31 duplication syndrome,True
15633,Bazex syndrome,True
17735,congenital aortic valve stenosis,True
19929,"49,XXXXY syndrome",True
19928,"48,XXXY syndrome",True
12164,Meacham syndrome,True
19505,hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome,True
17767,rheumatic fever,True
19518,Waardenburg-Shah syndrome,True
15681_1726,childhood disintegrative disorder,True
17682,intellectual disability-polydactyly-uncombable hair syndrome,True
16506,ectopic aldosterone-producing tumor,True
12089,ichthyosis prematurity syndrome,True
17668,intellectual disability-short stature-hypertelorism syndrome,True
17867,distal 17p13.1 microdeletion syndrome,True
19444,Trichinellosis,True
2457,Treacher-Collins syndrome,True
20470,"49,XYYYY syndrome",True
15793,moderate multiminicore disease with hand involvement,True
15794,antenatal multiminicore disease with arthrogryposis multiplex congenita,True
16505,aldosterone-producing adrenal cortex adenoma,True
17614,X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome,True
20469,"48,XYYY syndrome",True
5715,congenital toxoplasmosis,True
19415,fetal and neonatal alloimmune thrombocytopenia,True
8982,central areolar choroidal dystrophy,True
19151,oligocone trichromacy,True
19514,hepatic veno-occlusive disease,True
19509,cutaneous leukocytoclastic angiitis,True
19499,Turner syndrome,True
10399,chromosome Xp21 deletion syndrome,True
17609,renal tubular dysgenesis,True
15293,segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome,True
19797,acrodysostosis,True
20333,aggressive systemic mastocytosis,True
10271,X-linked myotubular myopathy-abnormal genitalia syndrome,True
20331,indolent systemic mastocytosis,True
20332,systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease,True
19795,acalvaria,False
15696,Good syndrome,True
15735,severe congenital nemaline myopathy,True
19635,idiopathic achalasia,True
19943,hereditary continuous muscle fiber activity,True
19455,acute panmyelosis with myelofibrosis,True
5272,refractory anemia,True
20315,unclassified myelodysplastic syndrome,True
19940,hypertrichosis-acromegaloid facial appearance syndrome,True
19933,acromegaly,False
16946,partial trisomy of the short arm of chromosome 9,True
19454,myelodysplastic syndrome with excess blasts,True
17872,Lujo hemorrhagic fever,True
19524,infantile Bartter syndrome with sensorineural deafness,True
17771,Mayer-Rokitansky-Kuster-Hauser syndrome,True
18821,X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability,True
16418,"multiple system atrophy, cerebellar type",True
20340,bilateral perisylvian polymicrogyria,True
19565,hereditary von Willebrand disease,True
9997,Roberts syndrome,True
5737,Ebola hemorrhagic fever,True
15701,T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency,True
15326,night blindness-skeletal anomalies-dysmorphism syndrome,True
17694,"glycogen storage disease due to acid maltase deficiency, infantile onset",True
17783,congenital pancreatic cyst,True
18336,obsolete Silver-Russell syndrome due to a point mutation,True
18822,global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome,True
15324,cataract-intellectual disability-anal atresia-urinary defects syndrome,True
44778_19478,nodular lymphocyte predominant Hodgkin lymphoma,True
18005,spastic paraplegia-Paget disease of bone syndrome,True
15325,cataract-deafness-hypogonadism syndrome,True
17180,10q22.3q23.3 microduplication syndrome,True
19634,familial nasal acilia,True
19926,X small rings,True
15300,cataract - microcornea syndrome,True
17076,posterior meningocele,True
19609,Zellweger syndrome,True
19610,Zollinger-Ellison syndrome,True
17100,neutropenia-monocytopenia-deafness syndrome,True
6952,retinopathy of prematurity,True
17649,hemidystonia-hemiatrophy syndrome,True
15290_1440,neurotrophic keratopathy,True
15291,stromal keratitis,True
110,bifid nose,False
18130,brain dopamine-serotonin vesicular transport disease,True
17049,hypomyelination neuropathy-arthrogryposis syndrome,True
17648,Sydenham chorea,True
19535,drug-induced autoimmune hemolytic anemia,True
19536,typical hemolytic-uremic syndrome,True
34104,global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome,True
19861,thyroid hypoplasia,True
15285,Carney complex,True
19534,mixed-type autoimmune hemolytic anemia,True
15703,T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta,True
18860,microlissencephaly-micromelia syndrome,True
18861,Zellweger-like syndrome without peroxisomal anomalies,True
33672,Duane anomaly-myopathy-scoliosis syndrome,True
19857,congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies,True
15282,cardiomyopathy-cataract-hip spine disease syndrome,True
19855,athyreosis,False
19860,thyroid hemiagenesis,True
19614,pituitary deficiency due to Rathke's pouch cysts,True
19615,pituitary dermoid and epidermoid cysts,True
19854,thyroid ectopia,True
15283,maternally-inherited cardiomyopathy and hearing loss,True
18131,neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion,True
18820,recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome,True
19618,Sheehan syndrome,True
19611,TSH-secreting pituitary adenoma,True
15279,chronic mucocutaneous candidiasis (disease),True
19613_17822_3603,non-functioning pituitary adenoma,True
15277,medullary thyroid gland carcinoma,True
19612,functioning gonadotropic adenoma,True
15275,partial atrioventricular canal,True
19848,posterior hypospadias,True
7757,hyperkeratosis-hyperpigmentation syndrome,True
12126,familial avascular necrosis of femoral head,True
11262,"camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye",True
19084,radiation proctitis,True
19640_18560,urethral valve,True
19085,vernal keratoconjunctivitis,True
15272,camptodactyly-taurinuria syndrome,True
19083,Leigh syndrome with cardiomyopathy,True
17394,ketamine-induced biliary dilatation,True
19639_19646_19647,congenital megacalycosis,True
19637,renal hypoplasia (disease),True
19086,carcinoma of esophagus,True
15269,symmetrical thalamic calcifications,True
15264,cryptogenic organizing pneumonia,True
16994,microcephalic osteodysplastic primordial dwarfism types I and III,True
19542,acute liver failure,True
15268,medullary sponge kidney,True
19543,acquired aneurysmal subarachnoid hemorrhage,True
17794,Xq12-q13.3 duplication syndrome,True
5683,brucellosis,True
19544,cocaine intoxication,True
19540,diffuse alveolar hemorrhage (disease),True
19000,perineural cyst,True
15998,isolated ectopia lentis,True
15995,melorheostosis with osteopoikilosis,True
18443,FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome,True
18907,craniopharyngioma,True
15986,bilateral renal agenesis,True
15357,secondary hypoparathyroidism due to impaired parathormon secretion,True
16318,progressive multifocal leukoencephalopathy,True
16504,primary unilateral adrenal hyperplasia,True
34092,optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome,True
15944,axial mesodermal dysplasia spectrum,True
15941,epiphyseal dysplasia-hearing loss-dysmorphism syndrome,True
15883,"hidrotic ectodermal dysplasia, Halal type",True
19002,Lhermitte-Duclos disease,True
19633,relapsing fever,True
19632,Lyme disease,True
19266,SAPHO syndrome,True
15533,benign cephalic histiocytosis,True
17013,trisomy 8p,False
17880,Rift valley fever,True
17309,neonatal Marfan syndrome,True
20472,Turner syndrome due to structural X chromosome anomalies,True
19188,Rubinstein-Taybi syndrome,True
18323_18322,"HSD10 disease, neonatal-infantile",True
19186,Q fever,False
18354,Prader-Willi-like syndrome,True
18355,Prader-Willi-like syndrome due to point mutation,True
17786,2q23.1 microduplication syndrome,True
16098,immune-mediated necrotizing myopathy,True
15627,multiple epiphyseal dysplasia due to collagen 9 anomaly,True
19939,early-onset schizophrenia,True
18974,paraneoplastic pemphigus,True
19338,sarcoidosis,True
10586,X-linked Ehlers-Danlos syndrome,True
2735,anal canal adenocarcinoma (disease),True
4132,anal canal squamous cell carcinoma,True
18474,13q12.3 microdeletion syndrome,True
19144,hereditary thrombophilia due to congenital protein S deficiency,True
19145,hereditary thrombophilia due to congenital protein C deficiency,True
18321,atypical juvenile parkinsonism,True
19141,porokeratosis of Mibelli,True
18320,primary microcephaly-mild intellectual disability-young-onset diabetes syndrome,True
19142,inherited porphyria,True
19127,polymyositis,True
19174,infantile Refsum disease,True
19180,hereditary hemorrhagic telangiectasia,True
19173,rabies,False
17941,chikungunya,True
19017,short fifth metacarpals-insulin resistance syndrome,True
19169,pyruvate dehydrogenase deficiency,True
19168,pyomyositis,True
19170_18593_18592_18596_18594,polyarteritis nodosa,True
19167,immunoglobulin a vasculitis,True
18571,contractures-developmental delay-Pierre Robin syndrome,True
21023,complete androgen insensitivity syndrome,True
19165_88_15791_15714,precocious puberty,True
16847,trisomy 1q,False
15205,isolated lissencephaly type 1 without known genetic defects,True
19355,adult-onset Still disease,True
18636,autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome,True
16846,distal 22q11.2 microduplication syndrome,True
19664,"short rib-polydactyly syndrome, Verma-Naumoff type",True
15201_22457,ankyloblepharon filiforme-imperforate anus,True
11788,cloverleaf skull-multiple congenital anomalies syndrome,True
19345,shigellosis,True
16845,21q22.11q22.12 microdeletion syndrome,True
15199,aniridia - intellectual disability syndrome,True
15198,aniridia-ptosis-intellectual disability-familial obesity syndrome,True
19402_16486,beta thalassemia,True
16844,trisomy 20p,True
19392,syringocystadenoma papilliferum,True
16843,20q13.33 microdeletion syndrome,True
15863,polyembryoma,True
16557,leukonychia totalis,True
16545,leukoencephalopathy-palmoplantar keratoderma syndrome,True
19390,Susac syndrome,True
15197,aneurysm of sinus of Valsalva,True
15196,vein of Galen aneurysm,True
5033,ganglioneuroma (disease),True
19366,free sialic acid storage disease,True
20352,"multiple system atrophy, parkinsonian type",True
19358,encephalopathy due to sulfite oxidase deficiency,True
16842,paternal 20q13.2q13.3 microdeletion syndrome,True
17859,colchicine poisoning,True
17860,methanol poisoning,True
17861,ethylene glycol poisoning,True
16528,limb body wall complex,True
18971,isolated oxycephaly,True
16527,glycogen storage disease due to lactate dehydrogenase deficiency,True
17283,facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion,True
5854_3900_16663,connective tissue disease,True
15584,febrile infection-related epilepsy syndrome,True
19340,scleroderma (disease),True
18341,3q27.3 microdeletion syndrome,True
18465,insulin autoimmune syndrome,True
5933,pulmonary blastoma,True
16520,isolated Klippel-Feil syndrome,True
17183,hyperinsulinism due to UCP2 deficiency,True
20366,congenital glaucoma,True
16521,muscular pseudohypertrophy-hypothyroidism syndrome,True
5563,nut midline carcinoma,True
19486,myoclonic epilepsy of infancy,True
16730,gangliocytoma,True
12727,mucocutaneous lymph node syndrome,True
17284,Xp22.13p22.2 duplication syndrome,True
15082,alopecia antibody deficiency,True
19556,pressure-induced localized lipoatrophy,True
16514,epidermolysis bullosa simplex with anodontia/hypodontia,True
19554,idiopathic localized lipodystrophy,True
19555,panniculitis and localized lipodystrophy,True
19087,cholangiocarcinoma,True
17184,autosomal dominant hyperinsulinism due to SUR1 deficiency,True
12650,Cernunnos-XLF deficiency,True
19552,centrifugal lipodystrophy,True
19553,drug-induced localized lipodystrophy,True
17802,ovarian fibrothecoma,True
16515,Kallmann syndrome-heart disease syndrome,True
17185,autosomal dominant hyperinsulinism due to Kir6.2 deficiency,True
16724,papillary tumor of the pineal region,True
16722,pineoblastoma,True
16723,pineocytoma (disease),True
16466,asbestosis,False
14097,congenital short bowel syndrome,True
16467,isotretinoin syndrome,True
17404,distal Xq28 microduplication syndrome,True
18133,attenuated Chédiak-Higashi syndrome,True
20346,synaptic congenital myasthenic syndrome,True
20344,postsynaptic congenital myasthenic syndrome,True
100130,adult acute respiratory distress syndrome,True
2303_6948_6951_2089_41093_1630_1633_2088,retinal artery occlusion,True
18946,rhombencephalosynapsis,True
18755,scorpion envenomation,True
19489,diffuse palmoplantar keratoderma - acrocyanosis syndrome,True
13024,chronic thromboembolic pulmonary hypertension,True
15695,combined immunodeficiency due to CRAC channel dysfunction,True
17405,1p21.3 microdeletion syndrome,True
18842,primary effusion lymphoma,True
19091,bronchopulmonary dysplasia,True
18461,Angelman syndrome due to a point mutation,True
18462,Angelman syndrome due to imprinting defect in 15q11-q13,True
6851,meconium aspiration syndrome,True
44737,autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction,True
4952,Hodgkins lymphoma,True
18574,intellectual disability-expressive aphasia-facial dysmorphism syndrome,True
18695,avian influenza,True
18922,cold agglutinin disease,True
18342,Joubert syndrome with Jeune asphyxiating thoracic dystrophy,True
17406,hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome,True
19076,circumscribed palmoplantar hypokeratosis,True
16051,cleft lip-retinopathy syndrome,True
19074,bilateral acute depigmentation of the iris,True
18573,intrauterine growth restriction-short stature-early adult-onset diabetes syndrome,True
7670,hypotrichosis-lymphedema-telangiectasia syndrome (grouping),True
18572,severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome,True
11934_23273,dermatofibrosarcoma protuberans,True
7339,blepharo-cheilo-odontic syndrome,True
18546,serotonin syndrome,True
8947,bilateral striopallidodentate calcinosis,True
17772,oral erosive lichen,True
16658,8p23.1 microdeletion syndrome,True
18614,undetermined early-onset epileptic encephalopathy,True
16659,8p23.1 duplication syndrome,True
18589,AApoAIV amyloidosis,True
16031,facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome,True
16657,8p11.2 deletion syndrome,True
16027_15642_18981,benign neonatal seizures,True
9049,Cushing syndrome due to macronodular adrenal hyperplasia,True
18575,microcephalic primordial dwarfism-insulin resistance syndrome,True
16030,Evans syndrome,True
100347,carcinoid syndrome,True
13025,chromosome 6q24-q25 deletion syndrome,True
15073,"gallbladder neuroendocrine tumor, grade 1/2",True
18682,congenital insensitivity to pain with severe intellectual disability,True
19571,autosomal dominant cutis laxa,True
16655,6p22 microdeletion syndrome,True
15069,neuroendocrine tumor of the anal canal,True
15070,laryngeal neuroendocrine neoplasm,True
15071,middle ear neuroendocrine tumor,True
16025,myoclonic-astastic epilepsy,True
2882,colon neuroendocrine neoplasm,True
11876_10826,absence epilepsy,True
3646,rectum neuroendocrine neoplasm,True
15066,"neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade",True
3111,gastric neuroendocrine neoplasm,True
15063,"duodenal neuroendocrine tumor, well differentiated, low or intermediate grade",True
16019,Rasmussen subacute encephalitis,True
15064,"jejunal neuroendocrine tumor, well differentiated, low or intermediate grade",True
15065,"ileal neuroendocrine tumor, well differentiated, low or intermediate grade",True
18933,Mazabraud syndrome,True
15061,neurogenic thoracic outlet syndrome,True
16022,early myoclonic encephalopathy,True
16020_15394,encephalocele,True
12521,herpes simplex encephalitis,True
5136,malaria,False
16015,phenobarbital embryopathy,True
16014,fetal minoxidil syndrome,True
16013,fetal methylmercury syndrome,True
16012,diethylstilbestrol syndrome,True
17949_17947_17946_15033,ABeta amyloidosis,True
18540,PFAPA syndrome,True
16653,2q33.1 microdeletion syndrome,True
16018,diabetic embryopathy,True
16017,methimazole embryofetopathy,True
19160,primary progressive freezing gait,True
16016,toluene embryopathy,True
19157_20099,idiopathic sideroblastic anemia,True
19158,tropical endomyocardial fibrosis,True
16005,indomethacin embryofetopathy,True
17267_17268,self-healing collodion baby,True
16004,aminopterin/methotrexate embryofetopathy,True
16090,late-infantile/juvenile Krabbe disease,True
19015,omphalocele (disease),True
12275,fetal valproate syndrome,True
16841,20p12.3 microdeletion syndrome,True
16840,trisomy 17p,True
16652,2q31.1 microdeletion syndrome,True
6906,pigmented villonodular synovitis,True
16011,fetal alcohol syndrome,True
16091,adult Krabbe disease,True
16010,vitamin K-antagonist embryofetopathy,True
16009,fetal trimethadione syndrome,True
16008,fetal hydantoin syndrome,True
16007,cocaine embryofetopathy,True
19004_24675,kidney Wilms tumor,True
17945,ABetaL34V amyloidosis,True
16651,maternal uniparental disomy of chromosome 1,True
16650,paternal uniparental disomy of chromosome 1,True
19799,hepatoerythropoietic porphyria,True
19035,pancreatoblastoma,True
15044,mu-heavy chain disease,True
15045,alpha-heavy chain disease,True
50,isolated congenital growth hormone deficiency,True
15046,gamma-heavy chain disease,True
19024,mast cell sarcoma,True
18699,obsolete pseudohypoparathyroidism with Albright hereditary osteodystrophy,True
16301,congenitally corrected transposition of the great arteries,True
18964,homocystinuria without methylmalonic aciduria,True
6486,uveal melanoma,True
18963,hereditary methemoglobinemia,True
16838,16q24.3 microdeletion syndrome,True
11082,oculoauriculofrontonasal syndrome,True
18961,familial melanoma,True
18960_16550_16551,congenital primary megaureter,True
18999,LCAT deficiency,True
15104,porphyria cutanea tarda,True
16837,16p13.11 microduplication syndrome,True
19022,sensorineural hearing loss-early graying-essential tremor syndrome,True
16089,infantile Krabbe disease,True
19179,monosomy 9q22.3,True
19178,auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome,True
18979,multifocal motor neuropathy,True
16836,16p13.11 microdeletion syndrome,True
11795,anonychia-microcephaly syndrome,True
5072,neuroblastoma,True
17360_19267,vitamin B12-unresponsive methylmalonic acidemia,True
13267,distal 16p11.2 microdeletion syndrome,True
5197,thymus neoplasm,True
17286,tempi syndrome,True
19095,plague,False
19082,bullous pemphigoid,True
19681,juvenile sialidosis type 2,True
17189,adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia,True
19199,interstitial granulomatous dermatitis with arthritis,True
18144,congenital myasthenic syndromes with glycosylation defect,True
16834,16p11.2p12.2 microduplication syndrome,True
15248,ataxia-photosensitivity-short stature syndrome,True
15247,opsoclonus-myoclonus syndrome,True
12008,Lelis syndrome,True
19125,relapsing polychondritis,True
19192,AKT2-related familial partial lipodystrophy,True
19123,continuous spikes and waves during sleep,True
19122_5749_44972_15927_4806_17363,eosinophilic pneumonia,True
17190,sporadic pheochromocytoma/secreting paraganglioma,True
19124,microscopic polyangiitis,True
19120,pili bifurcati,True
19121,pneumocystosis,True
18564,3p25.3 microdeletion syndrome,True
19190,juvenile polyposis of infancy,True
17193,symptomatic form of Coffin-Lowry syndrome in female carriers,True
16641,limb transversal defect-cardiac anomaly syndrome,True
16642,meningioma (disease),True
5657_240,aspergillosis,True
16639,lower limb deficiency-hypospadias syndrome,True
11128,Sheldon-hall syndrome,True
15240,digitotalar dysmorphism,True
16608,megalencephaly (disease),True
16604,dysraphism-cleft lip/palate-limb reduction defects syndrome,True
15241,arthrogryposis-like syndrome,True
15238,arrhinia-choanal atresia-microphthalmia syndrome,True
15237,arrhinia,False
5100,systemic sclerosis,True
15233,caudal appendage-deafness syndrome,True
15234,arachnodactyly-abnormal ossification-intellectual disability syndrome,True
19562,localized scleroderma,True
5629,Acanthamoeba keratitis,True
11261,"spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability",True
5919,placental insufficiency,True
19032,X-linked intellectual disability with isolated growth hormone deficiency,True
19031,thrombocytopenia with congenital dyserythropoietic anemia,True
15374_3346_100248,central nervous system vasculitis,True
16580_17248_17249_17250_17251_17252,congenital pulmonary airway malformation,True
10627,X-linked lymphoproliferative syndrome,True
17806,15q overgrowth syndrome,True
12638,microphthalmia-brain atrophy syndrome,True
16574,hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome,True
15230,anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome,True
18466,hereditary late onset Parkinson disease,True
13918,distal tetrasomy 15q,True
17805,intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome,True
18681,neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome,True
16568,Lowe-Kohn-Cohen syndrome,True
16567,locked-in syndrome,True
15583,2p21 microdeletion syndrome,True
17241,AP4-related intellectual disability and spastic paraplegia,True
18301,interstitial cystitis,True
19670,ulnar hemimelia,True
19671,radial hemimelia,True
19672_17492_17493,fibular hemimelia,True
15606,Xp22.3 microdeletion syndrome,True
15605,distal monosomy 9p,True
17574,chronic intestinal pseudoobstruction,True
18577,pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa,True
18576,non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy,True
17242,cutaneous collagenous vasculopathy,True
15607,partial chromosome Y deletion,True
17573,"46,XX disorder of sex development-anorectal anomalies syndrome",True
17244,pseudoxanthomatous diffuse cutaneous mastocytosis,True
18242,autoimmune hypoparathyroidism (disease),True
17571,Proteus-like syndrome,True
15580,distal monosomy 7q36,True
17809,parkinsonism due to ATP13A2 deficiency,True
5514,nanophthalmia,True
17568,Prata-Liberal-Goncalves syndrome,True
17808,duplication of the pituitary gland,True
17416,postpoliomyelitis syndrome,True
18845,focal myositis,True
15566,2q24 microdeletion syndrome,True
15579,Hb Bart's hydrops fetalis,True
18942,macrophagic myofasciitis,True
17379,polyneuropathy-intellectual disability-acromicria-premature menopause syndrome,True
17380,juvenile polyposis syndrome,True
18734,verrucous hemangioma,True
18939,muscle-eye-brain disease,True
18733,intellectual disability syndrome due to a DYRK1A point mutation,True
44652,optic atrophy-peripheral neuropathy-developmental delay syndrome,True
17377,preaxial polydactyly-colobomata-intellectual disability syndrome,True
7194,familial bicuspid aortic valve,True
18601,autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome,True
17365,"hereditary acrokeratotic poikiloderma, Weary type",True
17373,poliomyelitis,True
17055,mycophenolate mofetil embryopathy,True
17362,neuralgic amyotrophy,True
17364,POEMS syndrome,True
18760,WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome,True
17811,severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion,True
8003_16810_5181,progressive external ophthalmoplegia,True
17056,DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion,True
5823,legionellosis,True
5124,leprosy,False
18906,follicular lymphoma,True
18890,Lyell syndrome,True
17895,familial papillary or follicular thyroid carcinoma,True
5828,listeriosis,True
18887,obsolete rare cutaneous lupus erythematosus,True
18328,homozygous familial hypercholesterolemia,True
13233,"spondyloepimetaphyseal dysplasia, Handigodu type",True
18923,22q11.2 deletion syndrome,True
18925_700,familial or sporadic hemiplegic migraine,True
18924,"microphthalmia, Lenz type",True
18920,peripartum cardiomyopathy,True
18921,Meckel syndrome,True
5313,necrotizing enterocolitis,True
18913,malakoplakia,True
18916_19938_15733_15731_15732,anorectal malformation,True
16807,pure mitochondrial myopathy,True
16833,14q12 microdeletion syndrome,True
15524,hyperplastic polyposis syndrome,True
18222,X-linked intellectual disability due to GRIA3 anomalies,True
11023,hereditary mixed polyposis syndrome,True
5825,leptospirosis,True
18858,Graham Little-Piccardi-Lassueur syndrome,True
11989_5446,leishmaniasis,True
7893,Noonan syndrome with multiple lentigines,True
16167,optic pathway glioma,True
7666,glaucoma-sleep apnea syndrome,True
20475,dermotrichic syndrome,True
18661,Zika virus infectious disease,True
34142,pancreatic agenesis-holoprosencephaly syndrome,True
16159,Gemignani syndrome,True
16158,narcolepsy-cataplexy syndrome,True
16129,eosinophilic gastroenteritis,True
18884,Roch-Leri mesosomatous lipomatosis,True
18883,Berardinelli-Seip congenital lipodystrophy,True
18879,lichen planopilaris,True
6941,rat-bite fever,True
19339,"47,XYY syndrome",True
18950,3-methylcrotonyl-CoA carboxylase deficiency,True
18077,tularemia,False
17775,melioidosis,True
17776,nocardiosis,True
16087,progressive non-infectious anterior vertebral fusion,True
16832,distal 7q11.23 microduplication syndrome,True
16331,infantile systemic hyalinosis,True
16299,holoprosencephaly-caudal dysgenesis syndrome,True
18471,generalized eruptive keratoacanthoma,True
34024,kyphoscoliotic Ehlers-Danlos syndrome,True
16621,juvenile Huntington disease,True
5711,congenital diaphragmatic hernia,True
16292,nodular neuronal heterotopia,True
16291,"craniosynostosis, Herrmann-Opitz type",True
16561,1q44 microdeletion syndrome,True
17291,reversible cerebral vasoconstriction syndrome,True
16468,toxin-mediated infectious botulism,True
16264_5543_21176_21177,autoimmune hepatitis,True
16256,Hennekam syndrome,True
15892,growth hormone insensitivity syndrome,True
16244,atypical hemolytic-uremic syndrome,True
16372,glossopharyngeal neuralgia,True
18106,hereditary xanthinuria,True
16290,Hernández-Aguirre Negrete syndrome,True
16238,solitary fibrous tumor,True
17471_17469_17468_17563,congenital patella dislocation,True
16237,diffuse neonatal hemangiomatosis,True
18097,West syndrome,True
5116,Whipple disease,True
15171,congenital enterocyte heparan sulfate deficiency,True
19104,Sandifer syndrome,True
19105,renal nutcracker syndrome,True
16370,Marchiafava-Bignami disease,True
18095,Weaver-Williams syndrome,True
23275,Graham-Boyle-Troxell syndrome,True
18476,dystonia-aphonia syndrome,True
19102,dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome,True
18092,Vogt-Koyanagi-Harada disease,True
16219,dysmorphism-pectus carinatum-joint laxity syndrome,True
18091,microcephaly-brachydactyly-kyphoscoliosis syndrome,True
19108,silent sinus syndrome,True
19209,Japanese encephalitis,True
16558,familial congenital mirror movements,True
18204,20q11.2 microduplication syndrome,True
18089,double outlet right ventricle,True
19693,multiple metaphyseal dysplasia,True
18469,pulmonary non-tuberculous mycobacterial infection,True
18470,renal agenesis (disease),True
19205,trichodysplasia-amelogenesis imperfecta syndrome,True
31037,famililal cerebral cavernous malformations,True
18696,corticobasal syndrome,True
18085,umbilical cord ulceration-intestinal atresia syndrome,True
18086,ulerythema ophryogenesis,True
18082,aorto-ventricular tunnel (disease),True
19203,acute interstitial pneumonia,True
903,myoclonus-dystonia syndrome,True
17968,"46,XY ovotesticular disorder of sex development",True
15712,non-distal trisomy 10q,True
15706,mosaic trisomy 1,True
5091,severe acute respiratory syndrome,True
15723,trisomy 12p,True
19682,congenital sialidosis type 2,True
18870,arterial calcification of infancy,True
15672,diprosopus,False
18764,microcephalic primordial dwarfism due to RTTN deficiency,True
15663,diencephalic syndrome,True
9278,hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency,True
19101,retinal capillary malformation,True
17201,Spasmus nutans (disease),True
19100,neuromyelitis optica,True
16815,Leigh syndrome with leukodystrophy,True
16816,Leigh syndrome with nephrotic syndrome,True
15660_23142,fetal brain disruption sequence,True
19218,inborn disorder of bile acid synthesis,True
17579,Baraitser-Winter cerebrofrontofacial syndrome,True
15661,dextrocardia (disease),True
16889,partial deletion of the short arm of chromosome 7,True
18203,LMNA-related cardiocutaneous progeria syndrome,True
19212,disseminated superficial actinic porokeratosis,True
15614_6565,dermatitis herpetiformis,True
18349,MAN1B1-CDG,False
17823,somatomammotropinoma,True
16814,maternally-inherited Leigh syndrome,True
15772,trisomy 8q,False
15774,thoraco-abdominal enteric duplication,True
15773,fibular dimelia-diplopodia syndrome,True
18169,morning glory syndrome,True
16489,delta-beta-thalassemia,True
15768,trisomy 5p,False
44618,CLCN4-related X-linked intellectual disability syndrome,True
15769,distal trisomy 6p,True
16490,hemoglobin C-beta-thalassemia syndrome,True
18347,severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome,True
16491,hemoglobin E-beta-thalassemia syndrome,True
18208,neurofibromatosis type 1 due to NF1 mutation or intragenic deletion,True
17325,early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation,True
19412,dysspondyloenchondromatosis,True
15767,trisomy 4p,False
18770,Jeune syndrome,True
18781,KID syndrome,True
17366,hereditary pheochromocytoma-paraganglioma,True
18725,corpus callosum agenesis-macrocephaly-hypertelorism syndrome,True
18724,X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome,True
16487,beta-thalassemia intermedia,True
15729,mosaic trisomy 16,True
15728,distal trisomy 15q,True
11381,dominant beta-thalassemia,True
15741,distal trisomy 18q,True
15740,trisomy 18p,True
18896_43768,thrombocytopenic purpura,True
18851,familial keratoacanthoma,True
18850,proliferating trichilemmal cyst,True
18853,transgrediens et progrediens palmoplantar keratoderma,True
15727,mosaic trisomy 15,True
15726,distal trisomy 14q,True
15725,mosaic trisomy 14,True
15724,non-distal trisomy 13q,True
18895,Plummer-Vinson syndrome,True
8742_18542_28226,severe congenital neutropenia,True
18830,Kimura disease,True
18556,Lambert-Eaton myasthenic syndrome,True
18031,granulomatous slack skin disease,True
18800,Kallmann syndrome,True
19790,neuroleptic malignant syndrome,True
15420,cleft lip and alveolus,True
18541,familial hypoaldosteronism,True
9071,hereditary renal hypouricemia,True
20490,mosaic trisomy 9,True
18493,malignant hyperthermia of anesthesia,True
100189,apolipoprotein A-I deficiency,True
8347,idiopathic and/or familial pulmonary arterial hypertension,True
19788,non-secreting paraganglioma,True
18709,X-linked intellectual disability-hypotonia-movement disorder syndrome,True
4114,urinary bladder small cell neuroendocrine carcinoma,True
18683,acquired ichthyosis,True
16564,progressive supranuclear palsy-progressive non-fluent aphasia syndrome,True
19786,severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia,True
18608,pure autonomic failure,True
20488,atypical progressive supranuclear palsy syndrome,True
18631,Marie Unna hereditary hypotrichosis,True
19784,12q14 microdeletion syndrome,True
19783,neovascular glaucoma,True
20487,Pontiac fever,True
5619,typhoid fever,True
15761,trisomy 10p,True
17215,calciphylaxis,True
19406,craniofacial conodysplasia,True
19408,Astley-Kendall dysplasia,True
16996,NK-cell enteropathy,True
19405,facial onset sensory and motor neuronopathy,True
18459,isolated glycerol kinase deficiency,True
18408,cystic echinococcosis,True
17298,acute zonal occult outer retinopathy,True
16349,congenital hydrocephalus,True
43164,palmer pagon syndrome,True
16346,hydrocephalus-obesity-hypogonadism syndrome,True
18243,intellectual disability-hyperkinetic movement-truncal ataxia syndrome,True
8882,congenital bowing of long bones,True
16464_12520,insulin-resistance syndrome,True
16459,2q23.1 microdeletion syndrome,True
19067,idiopathic steroid-sensitive nephrotic syndrome,True
16460,polyvalvular heart disease syndrome,True
19068,congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization,True
18824,pyoderma gangrenosum,True
16433,dysmorphism-short stature-deafness-disorder of sex development syndrome,True
16461,5q35 microduplication syndrome,True
16417,congenital ichthyosis-microcephalus-tetraplegia syndrome,True
15753,cap myopathy,True
7667,subependymoma,True
16699,myxopapillary ependymoma,True
16407,oligomeganephronia,True
16698,ependymoma,False
16414,"hypotrichosis-intellectual disability, Lopes type",True
17140,L1 syndrome,True
18018,wild type ATTR amyloidosis,True
15536,papular xanthoma,True
16393,hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome,True
15535,xanthoma disseminatum,True
15534_24617_4385,xanthogranuloma,True
6372,pituicytoma,True
6806,intermediate uveitis (disease),True
5081,preeclampsia,True
16395,foveal hypoplasia-presenile cataract syndrome,True
20482,myotonia permanens,True
20483,acetazolamide-responsive myotonia,True
18656,tremor-ataxia-central hypomyelination syndrome,True
16392,cerebellar hypoplasia-tapetoretinal degeneration syndrome,True
20479,pituitary gigantism,True
2728,rhabdoid tumor,True
5060_4510_3591,liposarcoma,True
15539,progressive nodular histiocytosis,True
16386,hypogonadotropic hypogonadism-retinitis pigmentosa syndrome,True
16385,hypogonadism-mitral valve prolapse-intellectual disability syndrome,True
33925,pediatric-onset Graves disease,True
18653,Polymerase proofreading-related adenomatous polyposis,True
17256_17257,idiopathic uveitis,True
18705,infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome,True
44354,Rosai-Dorfman disease,True
17213,postorgasmic illness syndrome,True
16380,acquired hypertrichosis lanuginosa,True
17258,idiopathic panuveitis,True
16546,primary orthostatic tremor,True
18153,Erdheim-Chester disease,True
19725,pediatric systemic lupus erythematosus,True
13847,chromosome 16p11.2 duplication syndrome,True
16378,maternal hyperthermia induced birth defects,True
16357,dysplastic cortical hyperostosis,True
16353,palmoplantar keratoderma-spastic paralysis syndrome,True
18566,short stature-advanced bone age-early-onset osteoarthritis syndrome,True
18490,cono-spondylar dysplasia,True
18736,kaposiform lymphangiomatosis,True
19365,scrub typhus,True
24472,boutonneuse fever,True
18297,hypotonia-speech impairment-severe cognitive delay syndrome,True
11794,obsolete Dravet syndrome,True
15824,oculomaxillofacial dysostosis,True
34021,spondylodysplastic Ehlers-Danlos syndrome,True
12359,combined immunodeficiency due to partial RAG1 deficiency,True
18253,intellectual disability-facial dysmorphism-hand anomalies syndrome,True
17577,spontaneous periodic hypothermia,True
17048,pseudomyxoma peritonei,True
15780,dyskeratosis congenita,True
15779,"45,X/46,XY mixed gonadal dysgenesis",True
15782,dysmorphism-cleft palate-loose skin syndrome,True
19263,autosomal erythropoietic protoporphyria,True
15781,facial dysmorphism-shawl scrotum-joint laxity syndrome,True
16483,intracranial berry aneurysm,True
5345,hypospadias (disease),True
3329_1556,urethral obstruction,True
3282,ovarian cyst (disease),True
4747,cleft lip (disease),True
6500_3096_2323,hemangioma,False
5441,otitis media (disease),True
20678,sensorineural hearing loss disorder,True
11284,astigmatism (disease),True
4758,scotoma (disease),True
4577,corneal ulcer,True
4770,exophthalmos (disease),True
1303,abnormal pupillary function (disease),True
1008,blepharophimosis (disease),True
7591,facial hypertrichosis (disease),True
5485,psychotic disorder,True
4750_1276,language disorder,True
1836,amenorrhea (disease),True
5015,diabetes mellitus (disease),True
4126,thyroiditis (disease),True
5044,hypertensive disorder,True
2615,xanthomatosis (disease),True
19290,hypopigmentation of the skin (disease),True
6499,hamartoma (disease),True
3799,conjunctivitis (disease),True
21003,polydactyly (disease),True
18838,lissencephaly spectrum disorders,True
728,ptosis (disease),True
6640,adrenal gland hyperfunction,True
465,atrioventricular block (disease),True
15193_18221,hydrops fetalis,True
5246,osteomyelitis (disease),True
1357_387,hypochromic anemia,True
5571,polycythemia (disease),True
19065,amyloidosis (disease),True
6022,acidosis disorder,True
11122,obesity disorder,True
1673,diarrheal disease,True
17078,cephalocele (disease),True
265,aspiration pneumonia (disease),True
2076,pneumothorax (disease),True
5098,stroke disorder,True
1256,arteriovenous hemangioma/malformation,True
1147,meningocele (disease),True
5001_4966,gastritis,False
945,venous insufficiency (disease),True
2277,arteriosclerosis disorder,True
20417,right aortic arch (disease),True
5468,hypotensive disorder,True
5392,scoliosis,False
19804,tracheomalacia,True
2257,ankylosis (disease),True
5178_6629_5416_6630_6631_6632,osteoarthritis,True
1822,hypolipoproteinemia (disease),True
1700,megaloblastic anemia (disease),True
5290,rhabdomyolysis (disease),True
866,myoglobinuria,True
5288,intestinal polyp (disease),True
1044,esophageal atresia (disease),True
19280,hypertrichosis (disease),True
859_8449,spina bifida,True
4981,atrial fibrillation (disease),True
4910,mitral valve prolapse (disease),True
1045,intestinal atresia (disease),True
4967,acute lymphoblastic leukemia (disease),True
1245,microcytic anemia,True
2281,macrocytic anemia (disease),True
1305,laryngostenosis,True
313,hypophosphatemia (disease),True
5520,rickets (disease),True
5160,aortic aneurysm (disease),True
754,anal fistula (disease),True
28737,obsolete biliary atresia disorder,True
3783,lymphopenia (disease),True
1149,microcephaly (disease),True
2280,anemia (disease),True
2274,monoclonal paraproteinemia disease,True
5402,lymphoid leukemia (disease),True
5059,leukemia (disease),True
19289,hyperpigmentation of the skin,True
5965,spinal stenosis,True
6869,nodular goiter (disease),True
43494,arteritis,False
6181,digestive system carcinoma,True
5369,carcinoid tumor (disease),True
4986,urinary bladder carcinoma,True
5086,renal cell carcinoma (disease),True
2454,thyroid adenoma (disease),True
4796,infectious meningitis,True
5466,hypersomnia (disease),True
16122,periodic paralysis (disease),True
19269,ichthyosis (disease),True
6547,exanthem (disease),True
6560,hypohidrosis,True
6608_6609,seborrheic dermatitis,True
2043,ectropion (disease),True
5105_5012,melanoma,False
20283_6651,uveitis,False
1271,lens subluxation (disease),True
1566,hypercalcemia disease,True
5397,goiter (disease),True
21187_11237_11470,hyperlipidemia,True
2177,hyperinsulinism (disease),True
15848,septate vagina,True
16754,vestibular schwannoma (disease),True
42727,sacrococcygeal teratoma,True
20289,congenital tricuspid malformation,True
5296,sleep apnea syndrome,True
5262,central nervous system cyst (disease),True
5318,canker sore,True
6497,cerebral palsy,True
20246,inherited vitreoretinopathy,True
18664,ectopia cordis (disease),True
5025_6669,endocarditis,True
3924,adrenal cortex adenoma,True
5070,neoplasm (disease),True
1370,pericardial effusion (disease),True
20236,lens position anomaly,True
4979,asthma,False
5667,biliary dyskinesia,True
2203,constipation disorder,True
2462_3137_1645_1871_3135_3138,glomerulonephritis,True
3019,potassium deficiency disease,True
5133,endometriosis (disease),True
1953,pyuria (disease),True
2333,splenic abscess (disease),True
5492,urticaria (disease),True
2127,urethral stricture (disease),True
19773,myelomeningocele,True
5304,biliary tract neoplasm (disease),True
1519,entropion (disease),True
5233,non-small cell lung carcinoma (disease),True
2102,cheilitis,False
2119,ossifying fibroma (disease),True
4348,retinal telangiectasia,True
1915,orbital cyst,True
1321,scleral staphyloma (disease),True
1913,oligospermia,True
5347,hypertriglyceridemia (disease),True
2610,purpura (disease),True
24276,glandular cell neoplasm,True
5310,atrial flutter (disease),True
5279,pulmonary embolism (disease),True
2807,bronchial neoplasm (disease),True
21210,trachea neoplasm,True
5292,colitis (disease),True
11438,acne (disease),True
5936,recurrent pneumonia (disease),True
3155,cavernous hemangioma,True
5463,aortic valve calcification (disease),True
5341_2529_2656_2939_2956_4091,skin carcinoma,True
5164,fibrosarcoma (disease),True
2598,germinoma (disease),True
15677,cardiac diverticulum (disease),True
6573,lipodystrophy (disease),True
4754,rectal prolapse (disease),True
16982,angiosarcoma (disease),True
1409,esophagitis (disease),True
5212,rhabdomyosarcoma (disease),True
2816,adrenal cortex disease,True
21034,genetic alopecia,True
2243,hemorrhagic disease,True
2245,blood platelet disease,True
3847,Mendelian disease,True
1703,color vision disorder,True
3832,complement deficiency,True
24290,enuresis,False
15508,genetic parenchymatous liver disease,True
2612,frontal lobe epilepsy,True
23603,hereditary connective tissue disorder,True
20573,inherited disease susceptibility,True
4069,inborn mitochondrial metabolism disorder,True
15979,hereditary predisposition to infections,True
20128_20129,motor neuron disease,True
5039,reproductive system disease,True
15572,cerebral malformation due to abnormal neuronal migration,True
508,syndromic intellectual disability,True
2259,gonadal disease,True
21147,disorder of development or morphogenesis,True
6506,congenital nonspherocytic hemolytic anemia,True
15503,nose and cavum anomaly,True
18562,genetic otorhinolaryngological malformation,True
15412_15415_15418_15411,facial cleft,True
6600_19288,pigmentation disease,True
5453,congenital heart disease,True
19695_19696,acromelic dysplasia,True
20127,genetic peripheral neuropathy,True
4183,axonal neuropathy,True
5066,metabolic disease,True
6025,autosomal recessive disease,True
15707,DNA repair defect other than combined T-cell and B-cell immunodeficiencies,True
100137,telomere syndrome,True
20162,secondary ectropion,True
6552,folliculitis,True
6566,keratosis,False
19117,genetic nervous system disorder,True
5560,brain disease,True
15945,polymalformative genetic syndrome with increased risk of developing cancer,True
19040_20226,chromosomal anomaly,True
21058,neoplastic syndrome,True
21075,neoplastic polyp,True
3225,bone marrow disease,True
2771,pulmonary fibrosis,True
5172,skeletal system disease,True
17578,disorder of thiamine metabolism and transport,True
20285,transposition of the great arteries and conotruncal cardiac anomaly,True
19245,lysosomal lipid storage disorder,True
18234,dysostosis,False
5497,bone development disease,True
20683,acute disease,True
21669,post-infectious disorder,True
24237,inherited neurodegenerative disorder,True
1476,coloboma,False
16764,isolated anophthalmia-microphthalmia syndrome,True
16156,qualitative or quantitative defects of FKRP,True
17745,disorder of O-mannosylglycan synthesis,True
16185_16184,qualitative or quantitative defects of protein O-mannosyltransferase,True
16182,"qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase",True
20259,myopathy with eye involvement,True
15656_16401,metabolic disease with epilepsy,True
20247,congenital vitreoretinal dysplasia,True
15919,syndromic neurometabolic disease with non-X-linked intellectual disability,True
18132,congenital muscular alpha-dystroglycanopathy with brain and eye anomalies,True
18284,congenital disorder of glycosylation with neurological involvement,True
18296,congenital disorder of glycosylation with developmental anomaly,True
16157,qualitative or quantitative defects of fukutin,True
18491,3-phosphoglycerate dehydrogenase deficiency,True
15159,multiple congenital anomalies/dysmorphic syndrome-intellectual disability,True
15327,developmental anomaly of metabolic origin,True
43005,genetic multiple congenital anomalies/dysmorphic syndrome,True
17273,autosomal ichthyosis syndrome with fatal disease course,True
17272,autosomal ichthyosis syndrome with prominent neurologics signs,True
4674,chorioretinitis (disease),True
100033,metabolic epilepsy,True
44975,disease of transporter activity,True
19226,glucose transport disorder,True
19058,neurometabolic disease,True
7263,cardiac rhythm disease,True
5336,myopathy,False
2525,inherited lipid metabolism disorder,True
16072_15860,anomaly of puberty or/and menstrual cycle,True
15898,adrenogenital syndrome,True
44976,disease of catalytic activity,True
2320,congenital nervous system disorder,True
15336,malformation syndrome with odontal and/or periodontal component,True
24257,hereditary motor neuron disease,True
19052,inborn errors of metabolism,True
1027,gonococcal seminal vesiculitis,True
6504,acquired metabolic disease,True
16003,ehrlichiosis,True
4805,leukocyte disease,True
1195,spotted fever,True
5677,Rickettsia conorii infectious disease,True
20592,disease of pharynx,True
1701,gastrointestinal anthrax,True
6752,Erysipelothrix rhusiopathiae infectious disease,True
1112,bubonic plague,True
308_256,systemic mycosis,True
5766,fungal lung infectious disease,True
266,pulmonary aspergilloma,True
5721,coxsackievirus infectious disease,True
6873,nutritional deficiency disease,True
4994,cardiomyopathy,True
44987,face disease,True
4678_18335,dermatophytosis,True
253,piedra,False
1461,tinea corporis,True
5358,Dengue hemorrhagic fever,True
45030,non-infectious diarrheal disease,True
2269,gastroenteritis,True
888,gastrointestinal mucositis,True
2917,disease of pilosebaceous unit,True
24268,superficial mycosis,True
24481,skin appendage disease,True
2041,fungal infectious disease,True
2051,integumentary system disease,True
254,cutaneous mycosis,True
1039,tonsillitis,True
1040,nasopharyngitis,True
24294_24295,skin disease caused by infection,True
4795_1051,otitis externa,True
5990,tracheitis,False
2647_1369,laryngitis,False
5249,pneumonia,False
5087,respiratory system disease,True
3619_1173,salpingitis,True
6002,urogenital tuberculosis,True
19376,West-Nile encephalitis,True
6009_19956_20069,encephalitis,True
5763,Flaviviridae infectious disease,True
25294,tick-borne infectious disease,True
5650,Arenaviridae infectious disease,True
100120,vector-borne disease,True
5784,hantavirus hemorrhagic fever with renal syndrome,True
6011,viral hepatitis,True
43424,digestive system infectious disease,True
5154,liver disease,True
5738,echinococcosis,True
20067,infectious encephalitis,True
2428,protozoa infectious disease,True
21747,Acanthamoeba infectious disease,True
5739,echinostomiasis,True
367,taeniasis,False
42488,Cestode infectious disease,True
4664,helminthiasis,True
5656,Ascaridida infectious disease,True
5745,Enoplea infectious disease,True
5943,Rhabditida infectious disease,True
5805,hypodermyiasis,True
255,subcutaneous mycosis,True
45033_2312,opportunistic mycosis,True
5135,parasitic infection,True
4892,refractive error,True
17881,Kyasanur forest disease,True
2319,phosphorus metabolism disease,True
5113_5550_5108,infectious disease,True
4928,lymph node disease,True
314,primary bacterial infectious disease,True
20590,mycobacterial infectious disease,True
1246,typhus,False
24416,Neorickettsia infectious disease,True
4944,neurosyphilis,True
5949,roseolovirus infectious disease,True
4651,smallpox,False
341,paralytic poliomyelitis,True
5643,Alphavirus infectious disease,True
21641,Bunyaviridae infectious disease,True
19222,inborn disorder of methionine cycle and sulfur amino acid metabolism,True
37938,inborn disorder of aspartate family metabolism,True
839,congenital abnormality,True
18454,dysostosis of genetic origin,True
812,vertebral column disease,True
4497_6718_5976_2897_2896,syphilis,False
24271,intestinal helminthiasis,True
44965,abdominal and pelvic region disorder,True
368,extrapulmonary tuberculosis,True
4647,in situ carcinoma,True
21345,carcinoma of pharynx,True
3220,gallbladder carcinoma,True
4715,liver carcinoma in situ,True
5496,bile duct carcinoma,True
2806,bronchogenic carcinoma,True
4660,lung carcinoma in situ,True
4992,cancer,False
2149,reproductive system cancer,True
6266_3124_36990,Leydig cell tumor,True
2696_20809,Sertoli cell tumor,True
5447,testicular cancer,True
2415,bone carcinoma,True
20669,paranasal sinus cancer,True
56819,nasal cavity and paranasal sinus carcinoma,True
5221_3777_3716,renal pelvis papillary urothelial carcinoma,True
5165,benign neoplasm,True
6054,reproductive system neoplasm,True
4180,benign urinary system neoplasm,True
4987,urinary bladder neoplasm,True
24503,digestive system neuroendocrine neoplasm,True
5516,osteochondrodysplasia,True
20242,genetic macular dystrophy,True
408_21720,fetal alcohol spectrum disorder,True
2326_1423,drug/alcohol-induced mental disorder,True
2120,neuroendocrine carcinoma,True
5814,intestinal cancer,True
24634,large intestine disease,True
6294,pleural cancer,True
2176,connective tissue cancer,True
21041,pleural solitary fibrous tumor,True
592,specific developmental disorder,True
45013,disease of extraembryonic membrane,True
21166,inflammatory disease,True
24575,pregnancy disorder,True
21562,omphalitis,False
5027,epilepsy,False
411,electroclinical syndrome,True
414,childhood electroclinical syndrome,True
19239,inborn disorder of serine family metabolism,True
5528,inborn vitamin metabolic disorder,True
20696,vitamin B12 deficiency,True
20606,sex-linked disease,True
429,autosomal genetic disease,True
5169,neoplasm of mature T-cells or NK-cells,True
15760_18908_15759,non-Hodgkin lymphoma,True
4095,B-cell neoplasm,True
5395,movement disorder,True
2427,cerebellar disease,True
100308,atactic disorder,True
426,autosomal dominant disease,True
21635,neurocristopathy,True
2366,autonomic nervous system neoplasm,True
25511,inherited neuroendocrine tumor,True
5284_451_450,progressive multiple sclerosis,True
992,heart conduction disease,True
4736,inherited amino acid metabolic disorder,True
19213,cerebral organic aciduria,True
20699,biotin metabolic disease,True
24298,vitamin deficiency disorder,True
2022,disease of orbital region,True
19721_19720,renal or urinary tract malformation,True
15110,genetic cardiac rhythm disease,True
5449,conduction system disorder,True
5267,heart disease,True
2869,heart valve disease,True
5385,vascular disease,True
477,focal dystonia,True
20120,skeletal muscle disease,True
4382,laryngeal disease,True
478,multifocal dystonia,True
21303,adenoma of small intestine,True
21375,tumor of duodenum,True
19722_19724_15163,glomerular disease,True
44967,limb disorder,True
5053,ischemic disease,True
490,glomerulosclerosis,True
6032,cystitis,False
2654,uterine disease,True
4631,tongue cancer,True
4972,adenoma,False
5061,lung adenocarcinoma,True
3218,adenocarcinoma in situ,True
19708,primary bone dysplasia with disorganized development of skeletal components,True
16112,inclusion myopathy,True
2254,syndromic disease,True
17276,frontotemporal dementia,True
1071,intellectual disability,True
5559,neurodegenerative disease,True
631,bone benign neoplasm,True
17795,ameloblastoma,True
2129,bone cancer,True
2360,chondroma,False
21228,brainstem neoplasm,True
2894,spinal chordoma,True
2731,cerebral hemisphere cancer,True
2544_16695_18744_2543_2540,oligodendroglial tumor,True
4245,ependymal tumor of brain,True
1952,parietal lobe cancer,True
4669,salivary gland cancer,True
44925_3212_371,oral/nasal cavity carcinoma,True
3113,extragonadal germ cell cancer,True
15864,mixed germ cell tumor,True
21271,villous adenoma of colon,True
5694,cecal neoplasm,True
5484,colorectal adenoma,True
24479,epithelial tumor of colon,True
24476,epithelial neoplasm of rectum,True
5616,pulmonary mucoepidermoid carcinoma,True
3438,combined small cell lung carcinoma,True
3184,trachea carcinoma,True
3036,mucoepidermoid carcinoma,True
21337,tonsil carcinoma,True
44704,oropharynx squamous cell carcinoma,True
5517,pharynx cancer,True
5864,muscle cancer,True
3939,muscle tissue disease,True
21533,intestinal neuroendocrine tumor G1,True
2995,"small intestine neuroendocrine tumor, well differentiated, low or intermediate grade",True
3198,small intestine adenocarcinoma,True
6815,jejunal cancer,True
2481,ovarian neuroendocrine neoplasm,True
5191,metastatic melanoma,True
6320,non-cutaneous melanoma,True
45063,major salivary gland adenoid cystic carcinoma,True
21070,sublingual gland carcinoma,True
21144,ovarian clear cell tumor,True
18364,malignant epithelial tumor of ovary,True
21351,neoplasm of neck,True
2749,extracranial neuroblastoma,True
21072,sympathetic paraganglioma,True
24645,retroperitoneal neoplasm,True
4988,breast adenocarcinoma,True
2447,endometrial carcinoma (disease),True
6003,uterine corpus cancer,True
4259,endocervical carcinoma,True
5153,cervical adenocarcinoma,True
2602,central nervous system disease,True
2977,autoimmune disease of the nervous system,True
5151,endocrine system disease,True
15974,severe combined immunodeficiency (disease),True
9332,congenital hematological disorder,True
2211,B cell deficiency,True
24623_18751,otorhinolaryngologic disease,True
4335,digestive system disease,True
2081,musculoskeletal system disease,True
3620,peripheral nervous system disease,True
5503,developmental disorder of mental health,True
100038,complex neurodevelopmental disorder,True
2025,psychiatric disorder,True
947,psychosexual disorder,True
2103,factitious disorder,True
4681,learning disability,True
12000,specific phobia,True
21145,disease of genitourinary system,True
5570,hematologic disease,True
4995,cardiovascular disease,True
5046,immune system disease,True
18898,primary cutaneous lymphoma,True
5240,kidney disease,True
1531,blood coagulation disease,True
831,thrombotic disease,True
21074,precancerous condition,True
621,immune system cancer,True
5833,lymphatic system disease,True
6116,breast carcinoma by gene expression profile,True
21100,breast neoplasm,True
634,thoracic benign neoplasm,True
21148,female reproductive system neoplasm,True
383,benign reproductive system neoplasm,True
3150,male reproductive system disease,True
643_21049_2198,vulvar neoplasm,True
2082,endocrine gland neoplasm,True
6130,central nervous system neoplasm,True
648,nervous system benign neoplasm,True
24757,cardiovascular neoplasm,True
19060,bone neoplasm,True
654_21581_44334,connective and soft tissue neoplasm,True
624,benign female reproductive system neoplasm,True
21353,tumor of uterus,True
21350,neoplasm of thorax,True
21042,glioma,False
5569,cartilage disease,True
2714,central nervous system cancer,True
5462,primitive neuroectodermal tumor,True
21211,brain neoplasm,True
21230_632_42487,uterine cervix neoplasm,True
21068,ovarian neoplasm,True
21050,vaginal neoplasm,True
21248,nervous system neoplasm,True
5872,nervous system cancer,True
24505,disorder by anatomical region,True
636,musculoskeletal system benign neoplasm,True
19464,heavy chain disease,True
19056,neuromuscular disease,True
5638,agnosia,False
685,visual agnosia (disease),True
24417,perceptual disorders,True
24422,auditory perceptual disorders,True
667,auditory agnosia,True
21084,vision disorder,True
19189,inborn disorder of amino acid and other organic acid metabolism,True
45022,disorder of organic acid metabolism,True
3117,somatoform disorder,True
19224,inborn disorder of gamma-aminobutyric acid metabolism,True
15953,genetic central nervous system and retinal vascular disease,True
702,microscopic colitis,True
6039,infectious colitis,True
29001,chemically-induced disorder,True
709_21207,Crohn ileitis and jejunitis,True
5539,small bowel Crohn disease,True
4627,duodenitis,False
4971,adenoid cystic carcinoma,True
1082,lymph node cancer,True
599,writing disorder,True
19530,non-syndromic syndactyly,True
11348,non-syndromic polydactyly,True
4730,speech disorder,True
5328,eye disease,True
16387,mitochondrial oxidative phosphorylation disorder,True
942,corneal disease,True
17393,blepharophimosis - intellectual disability syndrome,True
24255,genetic skin disease,True
4867,upper respiratory tract disease,True
6858,mouth disease,True
21674,post-viral disorder,True
24355,respiratory tract infectious disease,True
5227,abscess (disease),True
5275,lung disease,True
2614,bone inflammation disease,True
2657,breast disease,True
6999,tooth disease,True
2256,cervix disease,True
4701,uterine polyp,True
1593,rectal disease,True
2263,female reproductive system disease,True
24651,corticosteroid-induced osteoporosis,True
24461,angiomatosis,True
21440,benign neoplasm of skin,True
5664,bartonellosis,True
5271,allergic disease,True
5244,peripheral neuropathy,True
590,autoimmune disease of peripheral nervous system,True
778_781_783,fruit allergy,True
1243_1242,disseminated intravascular coagulation,True
1389,congenital coronary artery anomaly,True
3660,adult lymphoma,True
3541_870,acute lymphoblastic leukemia,True
3916,overnutrition,True
5381,bone disease,True
833,bone remodeling disease,True
1,disease or disorder,True
18373_18374_18384_18379,primary avascular,True
3409,colonic disease,True
18157,mitochondrial disorder due to a defect in mitochondrial protein synthesis,True
9637,inborn mitochondrial myopathy,True
577,congenital anemia,True
3659,pediatric lymphoma,True
17814,primary bone lymphoma,True
4355,childhood leukemia,True
4403,childhood precursor T-lymphoblastic lymphoma/leukemia,True
3538_3537,precursor lymphoblastic lymphoma/leukemia,True
873,lymphoblastic lymphoma,True
16047_17202_17203,endophthalmitis,True
20010,infectious disease of the nervous system,True
2708,retinitis,False
5132,cytomegalovirus infection,True
20950,viral eye infection,True
2026,candidiasis,True
44881,hematopoietic and lymphoid cell neoplasm,True
881,"myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1",True
20579,mucositis,False
6926,haemophilus infectious disease,True
6670,bacterial meningitis,True
21670,post-infectious syndrome,True
2271,colon adenocarcinoma,True
20794,colorectal medullary carcinoma,True
4991,minimally invasive lung adenocarcinoma,True
27772,lung colloid adenocarcinoma,True
18905_17601_6117_6268_6428,diffuse large B-cell lymphoma,True
16113_16115_16114,bulbospinal muscular atrophy,True
18329,persistent combined dystonia,True
17651,primary myoclonus,True
16342_17401_17402_17403,familial isolated arrhythmogenic ventricular dysplasia,True
20605,X-linked recessive disease,True
7432,cerebral arteriopathy with subcortical infarcts and leukoencephalopathy,True
931,endometrial disease,True
21321,malignant tumor of extrahepatic bile duct,True
921,ampulla of vater neoplasm,True
920,duodenum cancer,True
956,small intestine cancer,True
6709,common bile duct neoplasm,True
4849,pulmonary emphysema,True
6325,ocular melanoma,True
21313,eyelid cancer,True
21071_2354,laryngeal neoplasm,True
1572,leiomyoma,False
1825,squamous papilloma,True
7000,Treponema infectious disease,True
41825,bacterial meningitis caused by gram-negative bacteria,True
21449,benign neoplasm of stomach,True
24619,central nervous system infectious disorder,True
4884,eye degenerative disease,True
3382,eyelid disease,True
11057,cerebrovascular disorder,True
20673,arterial occlusion,True
20674,vascular insufficiency disorder,True
4634,vein disease,True
21723,vaginismus,False
595,sexual and gender identity disorders,True
5084,mental disorder,True
6733,dry eye syndrome,True
6170,conjunctival disorder,True
4021,mediastinal malignant lymphoma,True
2586,thymus cancer,True
24311,cancer affecting bone of limb skeleton,True
21082,Meckel diverticulum neoplasm,True
955,ileum cancer,True
6801,ileal neoplasm,True
4251,small intestine neoplasm,True
1854,lacrimal apparatus disease,True
6879,optic papillitis,True
3579,retinal nerve fibre layer disorder,True
2122,neuritis,False
24633_1105,renal hypertension,True
6846_1785_1133,malignant hypertension,True
5294,peripheral vascular disease,True
382,respiratory system benign neoplasm,True
44335,benign soft tissue neoplasm,True
5106,lipoma,False
20664,spindle cell neoplasm,True
21459,benign neoplasm of esophagus,True
627,benign endocrine neoplasm,True
4721,liver neoplasm,True
2513,kidney benign neoplasm,True
21457,benign neoplasm of pleura,True
620,breast benign neoplasm,True
21529,benign neoplasm of chest wall,True
17127,inherited soft tissue tumor,True
21503,benign neoplasm of gallbladder,True
21474,benign neoplasm of ear,True
21235,external ear neoplasm,True
36781,benign axillary neoplasm,True
24582,male reproductive system neoplasm,True
976,paratesticular lipoma,True
625,benign male reproductive system neoplasm,True
21385,extrahepatic bile duct neoplasm,True
965,liver lipoma,True
5311,atherosclerosis,True
5561,aortic disease,True
5904,pericarditis (disease),True
18312,histoplasmosis,True
596,paraphilic disorder,True
19050_4781_44348_44349,hemoglobinopathy,True
2037,pleural disease,True
43786,serositis,False
5281_12365_12366,gallbladder disease,True
2409,auditory system disease,True
5159,prostate carcinoma,True
6295,malignant urinary system neoplasm,True
37003,malignant phyllodes tumor,True
8315,prostate cancer,True
21102,prostate phyllodes tumor,True
20123,metabolic myopathy,True
4689,inborn metal metabolism disorder,True
5062,lymphoma,False
4896,esotropia,False
15926,pneumoconiosis,True
1000,mixed mineral dust pneumoconiosis,True
21108,meningitis (disease),True
1011,breast cyst,True
1007,chronic meningitis,True
3283,epididymal neoplasm,True
5836,male reproductive organ cancer,True
4970,adenocarcinoma,True
1016,epididymis cancer,True
1020,amblyopia (disease),True
1014,chronic leukemia,True
4277,gonorrhea,False
4767,vesiculitis,True
5076_5593,periodontitis,True
5975,suppurative otitis media,True
1036,hypopyon,False
17210,infectious anterior uveitis,True
44986,lymphoid system disease,True
4821,nasopharyngeal disease,True
5276,dental caries,True
4857,tendinitis,False
3749,esophageal disease,True
5020,intestinal disease,True
2519,anus disease,True
1849,chronic orbital inflammation,True
262,otomycosis,False
949,conjunctival degeneration,True
5085_1054,pterygium,False
21085,gastric neoplasm,True
2516,digestive system cancer,True
3252,granular cell cancer,True
4699,gastrointestinal lymphoma,True
5036,gastric adenocarcinoma,True
1061,pylorus cancer,True
2172,otosalpingitis,True
6019,yaws,False
1824_3335_4224_4372_6645,polyneuropathy,True
2420,tic disorder,True
2908,glucose metabolism disease,True
20598,malabsorption syndrome,True
2356,pancreas disease,True
1081,acute cervicitis,True
21157,gonococcal cervicitis,True
2345,cervicitis (disease),True
24339,lymph node neoplasm,True
612,lymphatic system cancer,True
21568,renal tubule disease,True
6510,renal tubular transport disease,True
1166,nephritis,False
2028_1156,personality disorder,True
3885,colorectal lipoma,True
2278,benign colon neoplasm,True
3299,colorectal leiomyoma,True
2013,lymphangioma,True
5338,open-angle glaucoma,True
21089,peripheral nervous system cancer,True
3098,mediastinal neural neoplasm,True
5843,mediastinal cancer,True
1095,mediastinum neuroblastoma,True
3327_3325,ganglioneuroblastoma,True
45019,lactation disease,True
24270,parasitic intestinal disease,True
4425,hyperthyroidism,True
1200_1134_15512_5080_100078,hypertension,True
1351,uterine adnexa cancer,True
637,musculoskeletal system cancer,True
45043,disease of uterine broad ligament,True
24654,skull disorder,True
5300,chronic kidney disease,True
4496,myocarditis,True
2052,lymphadenitis (disease),True
5387_19852_19851,primary ovarian failure,True
1889,ovarian dysfunction,True
6031,chronic rhinosinusitis,True
5961,sinusitis,False
5964,sphenoid sinusitis,True
4247,peptic ulcer disease,True
4298,stomach disease,True
5627,head and neck cancer,True
4756,nasal cavity neoplasm,True
649,sensory system cancer,True
376,respiratory system cancer,True
1128,nasal cavity cancer,True
6329,olfactory neuroblastoma,True
2329,testicular disease,True
2322,angiodysplasia,True
3432_4753_20252,strabismus,False
1309,oculomotor nerve paralysis,True
7002,trochlear nerve disease,True
2782,cranial nerve palsy,True
2800,thrombophlebitis,True
2039,cognitive disorder,True
1500,gender identity disorder,True
1160,dissociative disorder,True
396,spastic cerebral palsy,True
6496,palsy,False
6877,oophoritis,False
5552,ocular vascular disease,True
2261,keratopathy,True
6712,corneal edema,True
45070,digestive system melanoma,True
3649,esophageal neuroendocrine tumor,True
6927,Rickettsiaceae infectious disease,True
21668,disorder involving pain,True
3105,prostate disease,True
24625,disorder of lacrimal gland,True
18078,soft tissue sarcoma,True
1208,acute respiratory failure,True
21113,respiratory failure,True
24666,benign epithelial skin neoplasm,True
4751,disease of orbital part of eye adnexa,True
2285,pupil disease,True
926,eye accommodation disease,True
21206_1212,non-suppurative otitis media,True
21203,serous otitis media,True
3394,dental pulp disease,True
1214_6668_2314_5808_4811,conjunctivitis,True
1223,parathyroid gland disease,True
3780,T-cell immunodeficiency,True
5642,atopic conjunctivitis,True
21204,chronic otitis media,True
24616,tympanitis,False
24635,small intestine disease,True
4235,diverticulitis,True
4934,periostitis (disease),True
1230,acute orbital inflammation,True
1236,appendiceal neoplasm,True
2033,cecum cancer,True
56798,disorder of appendix,True
2034,cecum lymphoma,True
1235,appendix cancer,True
1240,neonatal anemia,True
1475,neutropenia,True
3699,phobic disorder,True
5701,chlamydia trachomatis infectious disease,True
4508,periapical periodontitis,True
4553,extrinsic allergic alveolitis,True
2311,retinal vascular disease,True
3718,occlusion precerebral artery,True
2721,necrosis of pituitary,True
15254,schistosomiasis,True
21201,skin infection,True
24610,parasitic skin disease,True
2099,Histoplasma capsulatum infectious disease,True
20944,fungal infection of eye,True
21680,streptococcal infection,True
2021,gingival disease,True
6678,bladder calculus,True
1176,lens disease,True
21234,spinal cord neoplasm,True
1279,intraspinal meningioma,True
18882,vasculitis,False
6918,posterior uveitis,True
1898,optic choroid disease,True
1286,exotropia,False
2156,fallopian tube disease,True
20591,disease of peritoneum,True
4980,atopic eczema,True
6794,hypersensitivity vasculitis,True
17133,genetic systemic or rheumatologic disease,True
20576,cutaneous vasculitis,True
2352,larynx cancer,True
933,subglottis neoplasm,True
1300,autonomic neuropathy,True
1292,autonomic nervous system disease,True
3767,mitral valve disease,True
6626,diabetic neuropathy,True
1515,corneal degeneration,True
4903_3085_1465_33821,keratitis,False
23865,corneal infection,True
3546,third cranial nerve disease,True
15368,neuro-ophthalmological disease,True
2738,acute transudative otitis media,True
1312_2737,acute otitis media,True
21202,allergic otitis media,True
5578,arthritic joint disease,True
1269,scleral disease,True
1340,heart cancer,True
21381,neoplasm of pericardium,True
1571,gynecomastia,True
2145,sex differentiation disease,True
6895,penile neoplasm,True
1592,prolapse of female genital organ,True
44980,disease of signal transduction,True
45046,inherited thyroid metabolism disease,True
3366_18015,hydrarthrosis,True
5554,rheumatologic disorder,True
2405,hepatic vascular disease,True
21209,heart neoplasm,True
3274,thoracic cancer,True
2100,cardiovascular cancer,True
1342,dysgammaglobulinemia (disease),True
3804,blood protein disease,True
3739,selective immunoglobulin deficiency disease,True
16106,progressive muscular dystrophy,True
1108,broad ligament malignant neoplasm,True
2715,uterine cancer,True
45044,ligament disease,True
2087,peritoneum cancer,True
37872,bordetellosis,True
1436,hemosiderosis,True
651,thoracic disease,True
270,lower respiratory tract disease,True
4390,ocular hypotension,True
4843,pathologic nystagmus,True
3276,middle ear disease,True
2332,splenic disease,True
474,pericardium disease,True
41154,disease of neck of urinary bladder,True
1380,bladder dome cancer,True
4860_44137,vitreous disease,True
3584,visual cortex disease,True
1941,blindness (disorder),True
17768,reflex epilepsy,True
1325,penile cancer,True
5010,coronary artery disease,True
4588_4587_1296,night blindness,True
21111,ureter neoplasm,True
1398,ureter benign neoplasm,True
638,benign glioma,True
56804,benign neoplasm of peripheral nervous system,True
4820,peripheral nerve schwannoma,True
4379,female breast carcinoma,True
1416,female reproductive organ cancer,True
1528,vulva cancer,True
2898,skin cancer,True
4592,impetigo,False
2234,vaginitis (disease),True
1331,conjunctival deposit,True
2933,osteosclerosis,True
1407,tracheal cancer,True
3543,trigeminal nerve disease,True
2633,cranial nerve neoplasm,True
21374,neoplasm of cerebral hemisphere,True
5495,adrenal gland disease,True
24891,non-infectious meningitis,True
45047,neurosarcoidosis,True
6816,arthropathy,True
6713,corneal neovascularization,True
5885,optic neuritis,True
3937,spondylitis,True
4579,retinoschisis,True
2279,iron metabolism disease,True
3648,tympanic membrane disease,True
940,trypanosomiasis,True
6026,urinary bladder disease,True
24318,viral infection of central nervous system,True
7006,ulnar neuropathy,True
24334_6940,nerve lesion,True
6683,brachial plexus neuropathy,True
1397,mononeuropathy,True
21063,malignant colon neoplasm,True
1462,descending colon cancer,True
6971,sigmoid neoplasm,True
56799,synovium disease,True
6764,fungal meningitis,True
3617,chronic salpingitis,True
1609,agranulocytosis,True
2922,pyoderma,False
21138,bone marrow cancer,True
3059,bile duct cancer,True
1308,corneal deposit,True
764,epithelial-stromal TGFBI dystrophy,True
1493,chronic pulmonary heart disease,True
4596,cor pulmonale,True
45003,scrotal disease,True
4869,pelvic varices,True
5941,retroperitoneal cancer,True
4993,carcinoma,False
2251,hepatitis,False
43693_13209_4790_21104,fatty liver disease,True
5280,prostatitis (disease),True
21666,ear infection,True
4866,eustachian tube disease,True
1509,endocrine exophthalmos,True
4184_1926,urethral disease,True
3182,anterior horn disease,True
916,intestinal infectious disease,True
1162,impulse control disorder,True
1524,globe disease,True
3240,thyroid gland disease,True
1343,impaired renal function disease,True
2183,enthesopathy,True
2639,glossopharyngeal nerve disease,True
647,benign vaginal neoplasm,True
6845,male genital tuberculosis,True
4779,epididymitis (disease),True
43218,neurovascular disease,True
5283,retinal disease,True
1543,lesion of sciatic nerve,True
4797,mononeuritis of lower limb,True
6960,sciatic neuropathy,True
1829,lumbosacral plexus lesion,True
5095_43377,spondyloarthropathy,True
1711,hepatic encephalopathy,True
19737,thrombotic microangiopathy,True
3689,familial hemolytic anemia,True
21181,inherited blood coagulation disorder,True
2187,vulvar disease,True
1554,phacogenic glaucoma,True
2471,bursitis,False
5881,oligohydramnios (disease),True
1561,pyloric stenosis (disease),True
3569,cranial nerve neuropathy,True
2453,retrocochlear disease,True
1564,binocular vision disease,True
5557,calcium metabolic disease,True
2123,calcinosis,False
1100,hypertrophy of breast,True
6106,benign smooth muscle neoplasm,True
21658,vascular ectasia,True
24352,viral respiratory tract infection,True
5856,Mononegavirales infectious disease,True
2460,lacrimal system cancer,True
5016,diabetic nephropathy,True
19706,lysosomal storage disease with skeletal involvement,True
20279,metabolic disease with corneal opacity,True
4804_4800_4812,dacryoadenitis,True
45004,skeletal ligament disease,True
17646,neurodegenerative disease with chorea,True
1142,salivary gland disease,True
586,autoimmune disease of exocrine system,True
5215,vulvar carcinoma,True
1526,labia minora cancer,True
1604,lagophthalmos,True
3641,central nervous system hematopoietic neoplasm,True
18935,hairy cell leukemia,True
1535,vagus nerve disease,True
2638,glossopharyngeal nerve neoplasm,True
3785,leukopenia,False
4926_1610_4925,dacryocystitis,True
5269,carotid artery disease,True
43541,viral conjunctivitis,True
43479,adenoviridae infectious disease,True
2040,dermatomycosis,True
1152,amnestic disorder,True
6672,balanitis,False
21164,posthitis,False
6956,Rickettsiosis,True
24487,nail infection,True
5264,transient ischemic attack (disease),True
473,arterial disorder,True
384,bladder benign neoplasm,True
1639,deficiency anemia,True
5800,hordeolum,False
1835,facial paralysis,True
3425,ophthalmoplegia,True
3134_1644_3139,proliferative glomerulonephritis,True
1646_1151,benign hypertension,True
1649,fungal esophagitis,True
5247,urinary tract infection (disease),True
2650,scrotal carcinoma,True
3319,scrotum neoplasm,True
5266,diabetic retinopathy,True
2175,degeneration of macula and posterior pole,True
21678,gram-negative bacterial infections,True
1670,tooth resorption,True
2220,tooth hard tissue disease,True
2520_19800,hepatic porphyria,True
5768,gastrointestinal tuberculosis,True
1704,vaginal glandular neoplasm,True
21078,glandular papilloma,True
4522,peritonitis,True
4744,borderline glaucoma,True
1165,tongue disease,True
4902,interstitial keratitis,True
44990,hand disease,True
5119,anthrax infection,True
1403,labium majus cancer,True
16345,non-familial restrictive cardiomyopathy,True
17028,secondary interstitial lung disease specific to adulthood associated with a systemic disease,True
2887_2886,bile duct disease,True
15909,aplastic anemia,True
5042,head disease,True
1258,vertebral artery occlusion,True
2400,synovitis (disease),True
41903,gonococcal infection of joint,True
5218,muscular disease,True
1723,progressive peripheral pterygium,True
1055,conjunctival pterygium,True
4427,supraglottis neoplasm,True
594,pervasive developmental disorder,True
42983,neurocutaneous syndrome,True
15356,hereditary neoplastic syndrome,True
2436,nasal disorder,True
6849,mastitis,False
2008_1507_2006,labyrinthitis,True
2466,eye carcinoma,True
3802,cornea cancer,True
2135,optic nerve disease,True
2131,jaw cancer,False
6850,maxillary sinus neoplasm,True
380,paranasal sinus carcinoma,True
4847,senile cataract,True
777,gastrointestinal allergy,True
23369,disease of facial skeleton,True
45048,toxemia of pregnancy,True
1757,frontal sinus neoplasm,True
5289,paranasal sinus neoplasm (disease),True
43459,radiation-induced disorder,True
5775,G6PD deficiency,True
2325,"tooth erosion, non-bacterial",True
1764,ethmoidal sinus neoplasm,True
44984,nasolacrimal duct disease,True
1933,endocrine pancreas disease,True
1718,scleritis (disease),True
2688,duodenal obstruction,True
4828,lower urinary tract calculus,True
1650,acute cystitis (disease),True
21160,gonococcal cystitis,True
2531,skin neoplasm,True
1806,vaginal squamous tumor,True
4230,adenomatoid tumor,True
21525,benign neoplasm of corpus uteri,True
2373_6674,benign mesothelioma,True
4526,mixed endometrial stromal and smooth muscle tumor,True
959,malignant hypertensive renal disease,True
21506,benign neoplasm of spinal cord,True
3844,central nervous system lipoma,True
1793,excessive tearing,True
3472,lice infestation,True
44989,foot disease,True
5323,bacterial sexually transmitted disease,True
2532,squamous cell neoplasm,True
4785,blepharitis,True
20947,parasitic eye infection,True
1868_1744_1742_1864,angle-closure glaucoma,True
16374,cranial neuralgia,True
2098,facial nerve disease,True
469,sinoatrial node disease,True
2363,papilloma,False
306,trichosporonosis,True
24432,nerve plexus disease,True
21161,gonococcal prostatitis,True
3288,bizarre leiomyoma,True
45049,hypermature cataract,True
462,eye adnexa disease,True
44083,alternariosis,True
2219,paraurethral gland neoplasm,True
21260_16172_16173_16174,sensory ganglionopathy,True
2286,renal artery disease,True
980,aortic atherosclerosis (disease),True
5372,male infertility,True
3046,anus neoplasm,True
6519,rectal cancer,True
6771,glossitis,False
315,commensal bacterial infectious disease,True
2118,urinary system disease,True
5568,cholesterol embolism,True
20594,abducens nerve disease,True
2166,rectum lymphoma,True
1879,anus cancer,True
5558,ovarian disease,True
2571,primary central nervous system lymphoma,True
3544,spinal cord cancer,True
16747,primary melanoma of the central nervous system,True
2217,central nervous system sarcoma,True
1150,hydrocephalus,True
2467,inner ear disease,True
2661,uveal disease,True
5009,congestive heart failure,True
6955,rheumatic heart disease,True
45045,selective IgG immunodeficiency,True
15697,immunoglobulin heavy chain deficiency,True
4855,tenosynovitis,True
2567,tracheal disease,True
40699,necrotizing scleritis,True
2246,perichondritis of auricle,True
1920_1031,purulent otitis media,True
3628,pulmonary valve disease,True
4789_1929_1930_1931,cholangitis,True
1804_1774,scleritis,False
3110,skin hemangioma,True
21169,epithelioid hemangioma,True
986,pleurisy,False
17635,parkinsonian syndrome due to neurodegenerative disease,True
4525,scabies,False
21373,neoplasm of parietal lobe,True
1517,dysentery,False
1574,capillary disease,True
15938,systemic disease,True
2146,hypogonadism,True
20537_20535,house/occupational allergic alveolitis,True
6481,ureter carcinoma,True
4566,postgastrectomy syndrome,True
19255,sphingolipidosis,True
15531_17025_18310_17036_17029,Langerhans cell histiocytosis,True
17827,malignant peripheral nerve sheath tumor,True
3354,heart sarcoma,True
20589,cardiac germ cell tumor,True
3562,rete testis neoplasm,True
2790,seminal vesicle tumor,True
4047,sphenoidal sinus neoplasm,True
1994,sphenoidal sinus cancer,True
44705,paranasal sinus squamous cell carcinoma,True
2003,papilledema,True
24389,anaerobic bacteria infectious disease,True
5420_16412_15777,hypothyroidism,True
688,inherited organic acidemia,True
16230_24291,vascular malformation,True
36976,benign epithelial neoplasm,True
36870,lymphatic vessel neoplasm,True
629,cardiovascular organ benign neoplasm,True
412,neonatal period electroclinical syndrome,True
2635,periodontal disease,True
44992,mouth mucosa disease,True
5071,nervous system disorder,True
2030,chronic cervicitis,True
24331,colorectal carcinoma,True
2035,colon lymphoma,True
24656,colorectal lymphoma,True
21698_21699,alcohol-related disorders,True
21199,disease by anatomical system,True
3448,benign spiradenoma,True
21046,breast fibroepithelial neoplasm,True
2488,intraductal breast neoplasm,True
40675,myofibroblastoma,True
21098,papillomatosis,True
2483,breast myoepithelial tumor,True
2078,heart septal defect,True
1657,brain cancer,True
3249,pineal gland cancer,True
3000,central nervous system germ cell tumor,True
5918,placenta praevia,True
24882,secondary neoplasm,True
2093,acanthoma (disease),True
6901_650,peritoneal neoplasm,True
20672,vascular occlusion disorder,True
2381,sweat gland neoplasm,True
21501,benign neoplasm of small intestine,True
21080,blood vessel neoplasm,True
3454,conjunctival cancer,True
4748,lip disease,True
1273,megacolon,False
21069,malignant endocrine neoplasm,True
15074,thyroid tumor,True
2132,skull cancer,True
3766,thalamic cancer,True
17611,pituitary tumor,True
6362,peritoneal mesothelioma (disease),True
9831,malignant pancreatic neoplasm,True
21076,pancreatic exocrine neoplasm,True
19496,neuroendocrine neoplasm,True
3607,neuritis of upper limb,True
2121,mononeuritis simplex,True
21580,neoplasm of jaw,True
24653,skull neoplasm,True
24458,disease of visual system,True
2137,noninfectious dermatoses of eyelid,True
5551,eye allergy,True
6525,allergic contact dermatitis,True
1402,vaginal cancer,True
6414,skin sarcoma,True
21054,bone sarcoma,True
5509,histiocytoma,True
5744,yolk sac tumor,True
16094,vaginal germ cell malignant tumor,True
19755,developmental defect during embryogenesis,True
3081,thalamic disease,True
4907,alopecia,False
15509,genetic biliary tract disease,True
21092_645,fallopian tube neoplasm,True
2158,fallopian tube cancer,True
5058,leiomyosarcoma,True
5636,adenosarcoma,True
21512,benign neoplasm of thymus,True
5335,colorectal neoplasm,True
44937,rectal carcinoma,True
5089,sarcoma,False
5008,colorectal adenocarcinoma,True
21218,placenta neoplasm,True
2185,hyperostosis,True
5359,drug-induced liver injury,True
21489,benign neoplasm of sweat gland,True
2189,nodular hidradenoma,True
2805,hidradenoma,True
2191,syringoma,False
3954,angiokeratoma of Fordyce,True
626,vestibular gland benign neoplasm,True
652,integumentary system benign neoplasm,True
21114,Bartholin gland neoplasm,True
2195,vulvar squamous neoplasm,True
6807,intestinal perforation,True
4177,benign urethral neoplasm,True
2090,eccrine sweat gland neoplasm,True
21043,mixed neoplasm,True
20593,trichoblastoma,True
4880,bowel dysfunction,True
1429,transient arthropathy,True
24336,vulvar adenocarcinoma,True
2181,exostosis,False
3778,primary immunodeficiency disease,True
2999,central nervous system germinoma,True
21372,neoplasm of temporal lobe,True
4041,urothelial papilloma,True
5626,epithelial neoplasm,True
1433,vaginal disease,True
21220,eye neoplasm,True
2242,coagulation protein disease,True
44979,disease by cell type,True
1631,vertebral artery insufficiency,True
836,disease of bone structure,True
21059,head or neck disease/disorder,True
24467,apocrine sweat gland disease,True
24286,benign blood vessel neoplasm,True
1318,functional gastric disease,True
2032,colon carcinoma,True
2273,plasma protein metabolism disease,True
4960,monoclonal gammopathy,True
5401,colonic neoplasm,True
21444,benign neoplasm of large intestine,True
226,mineral metabolism disease,True
2289,iris disease,True
6030,chronic cystitis,True
24877,clitoris neoplasm,True
2300,dermis tumor,True
6235,granular cell tumor,True
18327,glomus tumor,True
2295,skin glomus tumor,True
21154,dermis disease,True
1756,frontal sinus cancer,True
2307_1853_2306,blepharoconjunctivitis,True
20676,disease of central nervous system or retinal vasculature,True
21517,benign neoplasm of trachea,True
2407,capillary hemangioma,True
2328,intracranial hemangioma,True
21451,benign neoplasm of brain,True
3241,central nervous system hemangioma,True
3816,articular cartilage disease,True
2337,intra-abdominal hemangioma,True
21500,benign neoplasm of spleen,True
5303,drug dependence,True
5377,nephrotic syndrome,True
2353,glottis neoplasm,True
2358,laryngeal carcinoma,True
2351,glottis cancer,True
2238,ascending colon cancer,True
24470,benign chondrogenic neoplasm,True
21096,papillary epithelial neoplasm,True
5094,hemangiopericytoma,True
21163,kidney neoplasm,True
1406,peripheral nervous system neoplasm,True
5074,papillary cystadenocarcinoma,True
24621,serous cystadenocarcinoma,True
21077,cystic neoplasm,True
24235,Brenner tumor,True
2229,ovarian epithelial tumor,True
2056,breast fibroadenoma,True
3331,ovarian monodermal teratoma,True
5065,mesothelioma,True
21634,epithelial skin neoplasm,True
6963,sebaceous gland neoplasm,True
5966,spleen cancer,True
2379_4099,cystic teratoma,True
2601,teratoma,False
6615,sweat gland disease,True
2297,epidermal appendage tumor,True
6854,mesenchymoma,True
3272,mixed epithelial stromal tumor,True
2397,liver sarcoma,True
21097_21099_4253,intraductal breast papillomatosis,True
21045,fibroepithelial neoplasm,True
2691,liver cancer,True
24338,mucinous neoplasm,True
6071,adenofibroma,True
24715,benign synovial neoplasm,True
2522,tenosynovial giant cell tumor,True
2403,synovium cancer,True
2402,malignant giant cell tumor,True
2171,giant cell tumor,True
2528,synovium neoplasm,True
21223_385_6180,digestive system neoplasm,True
5093,skin disease,True
24288,hyperbilirubinemia,True
17755,inborn disorder of bilirubin metabolism,True
6938,pyelitis,False
19214,inborn carbohydrate metabolic disorder,True
19243,inborn disorder of energy metabolism,True
19743,nephropathy secondary to a storage or other metabolic disease,True
1763,ethmoid sinus cancer,True
2425,rectosigmoid junction cancer,True
2423,rectosigmoid junction neoplasm,True
1464,sigmoid colon cancer,True
17027,primary interstitial lung disease specific to adulthood,True
21221,vestibulocochlear nerve neoplasm,True
2433,malignant cranial nerve neoplasm,True
4532,auditory system cancer,True
2435,oculomotor nerve neoplasm,True
16541,acquired secondary polycythemia,True
3406,sleep-wake disorder,True
5213,uterine carcinoma,True
21510,benign neoplasm of prostate,True
37002,benign phyllodes tumor,True
5131,cervical carcinoma,True
15218_15217_20145,developmental defect of the eye,True
20158,eyelids malposition disorder,True
20157,syndromic palpebral coloboma,True
15334,branchial arch or oral-acral syndrome,True
20167,malposition of external canthus,True
43008,genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability,True
20253,syndrome with a symptomatic strabismus,True
19589,syndromic genetic deafness,True
15321,Pierre Robin syndrome associated with branchial archs anomalies,True
2236,ocular cancer,True
2464,lacrimal gland cancer,True
21222,lacrimal gland neoplasm,True
2038,head and neck carcinoma,True
21205,disease of ear,True
44971,disease of macromolecular complex,True
2472,carcinoma ex pleomorphic adenoma,True
2463,lacrimal gland carcinoma,True
21190,DNA repair disease,True
56802,synovial bursa disease,True
2380,myoepithelial tumor,True
5853,malignant mixed neoplasm,True
17703,disorder of glyoxylate metabolism,True
21259,prostate neoplasm,True
3125,testicular sex cord-stromal neoplasm,True
4658,breast carcinoma in situ,True
7254,breast cancer,True
21047,breast phyllodes tumor,True
2494,substance-related disorder,True
1106,kidney failure,True
4965,acinar cell carcinoma,True
5082,prostate adenocarcinoma,True
44336,colorectal signet ring cell carcinoma,True
40677,invasive carcinoma,True
5499,brain glioma,True
21636,astrocytic tumor,True
21079,childhood neoplasm,True
4842,stomatitis,False
6882,orchitis (disease),True
6509,papillary carcinoma,True
2515,hepatobiliary disease,True
21253,gallbladder neoplasm,True
37939,porphyria,False
24876,tendon sheath disorder,True
6424,soft tissue neoplasm,True
6517,childhood malignant neoplasm,True
2542,spinal cord glioma,True
100342,malignant glioma,True
21637,low grade glioma,True
16752,benign peripheral nerve sheath tumor,True
2547,nerve sheath neoplasm,True
2550,hypoglossal nerve neoplasm,True
1810,hypoglossal nerve disease,True
2553,cerebellopontine angle tumor,True
2545,spinal cord disease,True
1420,trigeminal nerve neoplasm,True
44969,disease of membrane bound organelle,True
5156,encephalomyelitis,True
17207,primary organ-specific lymphoma,True
4949,neoplasm of mature B-cells,True
17343,Epstein-Barr virus-associated malignant lymphoproliferative disorder,True
6389,prostate rhabdomyosarcoma,True
2577,extrahepatic bile duct rhabdomyosarcoma,True
24658,extrahepatic bile duct sarcoma,True
2849,liver rhabdomyosarcoma,True
2580,orbit rhabdomyosarcoma,True
4943,orbit sarcoma,True
2927,spindle cell sarcoma,True
6859,mucinous cystadenoma,True
5183,ovarian cystadenoma,True
5219,breast fibrocystic disease,True
5564,embryonal neoplasm,True
6290,malignant germ cell tumor,True
20580,germinomatous germ cell tumor,True
21656,nongerminomatous germ cell tumor,True
6359,neoplasm with perivascular epithelioid cell differentiation,True
2616,mesenchymal cell neoplasm,True
2603,angiomyolipoma,True
5384,partial epilepsy,True
24499,vascular bone neoplasm,True
9807,osteosarcoma (disease),True
21123,Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone,True
2636,accessory nerve disease,True
2631_2628_2620,osteosarcoma,True
6974,small cell sarcoma,True
5586,head and neck neoplasm,True
21167,myositis,False
15144,brain inflammatory disease,True
4777,acute laryngitis,True
21165,Paget disease,True
21112,scrotum cancer,True
2652,anus adenocarcinoma,True
2169,rectum adenocarcinoma,True
18351,adenocarcinoma of penis,True
2659,uveal cancer,True
21224,iris neoplasm,True
21225,uvea neoplasm,True
5092,signet ring cell carcinoma,True
2665,extrahepatic bile duct adenocarcinoma,True
3193,bile duct adenocarcinoma,True
3090,extrahepatic bile duct carcinoma,True
5184,pancreatic ductal adenocarcinoma,True
6215,gallbladder adenocarcinoma,True
2670,ampulla of vater adenocarcinoma,True
2664,extrahepatic bile duct signet ring cell carcinoma,True
17590,carcinoma of the ampulla of vater,True
6186,duodenal adenocarcinoma,True
6256,invasive breast carcinoma,True
2493,prostatic acinar adenocarcinoma,True
2677,conventional fibrosarcoma,True
2676,adult fibrosarcoma,True
5394,brain infarction,True
5583,non-human animal disease,True
5429,prion disease,True
2095,vascular cancer,True
16717,choroid plexus neoplasm,True
2682,cerebral ventricle cancer,True
16718,choroid plexus carcinoma,True
24744,childhood choroid plexus neoplasm,True
2071,supratentorial cancer,True
4565_2803_2801,intestinal obstruction,True
2866,duodenal disease,True
24477,liver and intrahepatic bile duct neoplasm,True
2907_2692,intracranial thrombosis,True
6055,sex cord-stromal tumor,True
10768,gonadoblastoma,True
5858,mucinous cystadenocarcinoma,True
5601,ovarian mucinous adenocarcinoma,True
2702,ovarian cystadenocarcinoma,True
2752,ovarian adenocarcinoma,True
5596,cystadenocarcinoma,True
18330,mucinous adenocarcinoma of the appendix,True
4957,mucinous adenocarcinoma,True
4953,invasive ductal breast carcinoma,True
6085,angiolipoma,True
4075,infiltrating lipoma,True
2713,epidural spinal canal neoplasm,True
2718_3731_3732_3734_3875_3958,central nervous system teratoma,True
19500,extragonadal teratoma,True
20574,central nervous system nongerminomatous germ cell tumor,True
16738,primary germ cell tumor of central nervous system,True
2785,skull base neoplasm,True
3381,pituitary gland disease,True
2727,olfactory nerve disease,True
5170,myeloid neoplasm,True
2724,mast cell neoplasm,True
2930,kidney sarcoma,True
21117,lung neoplasm,True
2748,rectum mucinous adenocarcinoma,True
2739,extrahepatic bile duct mucinous adenocarcinoma,True
2741,uterine ligament adenocarcinoma,True
2742,cervical mucinous adenocarcinoma,True
16275,adenocarcinoma of cervix uteri,True
3612,uterine ligament cancer,True
2746,fallopian tube adenocarcinoma,True
2745,fallopian tube mucinous tumor,True
6206,fallopian tube carcinoma,True
5461,endometrium adenocarcinoma,True
2751,bladder adenocarcinoma,True
5140,ovarian carcinoma,True
5615,plasmacytoma,True
3985,chest wall lymphoma,True
6006,verrucous carcinoma,True
24609,vulvar squamous cell carcinoma,True
2760,bladder squamous cell carcinoma,True
6143,cervical squamous cell carcinoma,True
16285,papillary carcinoma of the cervix uteri,True
2764,urethra squamous cell carcinoma,True
21327,carcinoma of urethra,True
5595,laryngeal squamous cell carcinoma,True
2770,vaginal discharge,True
15925_17031_17030_17034,interstitial lung disease,True
21322,malignant tumor of meninges,True
642,brain meningioma,True
6423,soft tissue chondroma,True
628,central nervous system organ benign neoplasm,True
3159,vascular hemostatic disease,True
2604,pericytic neoplasm,True
21348,neoplasm of testis,True
3260,adult cerebellar neoplasm,True
640,central nervous system primitive neuroectodermal neoplasm,True
3263,childhood cerebellar neoplasm,True
4625,phlebitis,False
2802,functional colonic disease,True
4567,ileus,False
3686,apocrine sweat gland neoplasm,True
21110,sweat gland adenoma,True
1672,bronchus cancer,True
5138,lung carcinoma,True
20641,respiratory tract neoplasm,True
1358,bronchial disease,True
5177,serous cystadenoma,True
2809,pancreatic cystadenoma,True
2369,cystadenoma,True
21354,tumor of adipose tissue,True
2817,adrenal gland cancer,True
1502,retroperitoneum carcinoma,True
21227,adrenal gland neoplasm,True
6474,transitional cell carcinoma,True
2829,bartholin gland carcinoma,True
653,integumentary system cancer,True
44787,nasal cavity and paranasal sinus squamous cell carcinoma,True
40679,urothelial carcinoma,True
6406,sarcomatoid carcinoma,True
45054,cancer-related condition,True
2848,skeletal muscle neoplasm,True
2852,mediastinum sarcoma,True
37743,mediastinal soft tissue cancer,True
2168,rectum sarcoma,True
2857,gallbladder sarcoma,True
5411,gallbladder cancer,True
2225,ovarian sarcoma,True
2490,breast sarcoma,True
2861,testis sarcoma,True
2853,rectum rhabdomyosarcoma,True
2865,anus sarcoma,True
6047,pancreatic adenocarcinoma,True
3420,bile duct cystadenoma,True
471,tricuspid valve disease,True
6447,testicular non-seminomatous germ cell tumor,True
2872,trophoblastic neoplasm,True
2874,testicular pure germ cell tumor,True
16277,malignant mixed epithelial and mesenchymal tumor of cervix uteri,True
6485,uterine carcinosarcoma,True
2879,uterine body mixed cancer,True
16255,uterine corpus mixed epithelial and mesenchymal neoplasm,True
2883,intestinal neuroendocrine neoplasm,True
21118,intestinal neoplasm,True
4868,biliary tract disease,True
24611,orbit neoplasm,True
3142,intracranial primitive neuroectodermal tumor,True
2912,brainstem cancer,True
3107,infratentorial cancer,True
2915,childhood infratentorial neoplasm,True
37736,infratentorial neoplasm,True
2918,clear cell meningioma,True
2370,ovarian Brenner tumor,True
5210,uterine corpus sarcoma,True
6745,endometrioid stromal sarcoma,True
6975,smooth muscle tumor,True
20663,malignant spindle cell neoplasm,True
2367,kidney cancer,True
6646,angioleiomyoma,True
24296,vascular neoplasm,True
18352,squamous cell carcinoma of penis,True
1651,scrotum squamous cell carcinoma,True
1470,anal margin squamous cell carcinoma,True
3501,external ear squamous cell carcinoma,True
3574,external ear cancer,True
21663,sarcomatoid squamous cell carcinoma,True
6915_16170_22768,polyradiculoneuropathy,True
24652,embryonic cyst of fallopian tube,True
1023,prolymphocytic leukemia,True
44999,scalp disease,True
21229,ciliary body neoplasm,True
2658,iris cancer,True
2485,breast neuroendocrine neoplasm,True
21039,extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor,True
2637,histiocytosis,True
2406,dermatitis,False
544,mucosal melanoma,True
2994,pancreatic delta cell neuroendocrine tumor,True
19954,pancreatic neuroendocrine tumor,True
386,"digestive system neuroendocrine tumor, grade 1/2",True
18510,small intestine neuroendocrine neoplasm,True
2998,skull base meningioma,True
15935,extragonadal germinoma,True
18201,extragonadal germ cell tumor,True
16280,sarcoma of cervix uteri,True
4037,retinal edema,True
5549,renal cell adenocarcinoma,True
36511,childhood malignant kidney neoplasm,True
5005,clear cell renal carcinoma,True
2232,nasal cavity disease,True
37737,peritoneal solitary fibrous tumor,True
5137,nutritional disorder,True
4539,aortic malignant tumor,True
18729,genetic vascular tumor,True
3028,thyroid sarcoma,True
2108,thyroid cancer,True
3031,endometrioid stromal and related neoplasms of the cervix,True
40676,great vessel cancer,True
2854,prostate sarcoma,True
6720,"cystic, mucinous, and serous neoplasm",True
598,aphasia,False
6853_3042,mesenchymal chondrosarcoma,True
2165,rectal neoplasm,True
5057,large cell neuroendocrine carcinoma,True
5232,large cell carcinoma,True
24279_4265_918,endometritis,True
2681,choroid plexus cancer,True
2772,intraventricular meningioma,True
21527,benign neoplasm of meninges,True
21662,bile duct neoplasm,True
3060,biliary tract cancer,True
21545,myomatous neoplasm,True
5605,transitional cell papilloma,True
2537,inverted papilloma,True
6969,sialadenitis,True
3067,cervical lymphadenitis,True
1597,submandibular gland disease,True
21231,retina neoplasm,True
24239,congenital anomaly of cardiovascular system,True
7008,uremia,False
3209,thymus gland adenocarcinoma,True
2475,lacrimal gland adenocarcinoma,True
21386,neoplasm of mediastinum,True
21379,neoplasm of epicardium,True
1322,pericardium cancer,True
21530,benign neoplasm of subglottis,True
3510,malignant testicular germ cell tumor,True
17663,inherited tremor disorder,True
18191,tumor of testis and paratestis,True
16713,central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor,True
3153,adult brainstem glioma,True
24797,adult brain stem neoplasm,True
2911,brain stem glioma,True
2334,hematopoietic and lymphoid system neoplasm,True
19781,astrocytoma (excluding glioblastoma),True
3164,cauda equina neoplasm,True
3103,nerve root neoplasm,True
21631_21633,brain astrocytoma,True
2913,cerebellar neoplasm,True
16691_4000_3999,juvenile pilocytic astrocytoma,True
21499,benign neoplasm of cerebellum,True
3165,cerebellar astrocytoma,True
2786,diencephalic cancer,True
3169,diencephalic astrocytomas,True
521,salivary gland carcinoma,True
5524,sweat gland carcinoma,True
3853,Bartholin gland adenocarcinoma,True
3190,middle ear carcinoma,True
3275,middle ear cancer,True
3192,rete ovarii neoplasm,True
18532,adenocarcinoma of liver and intrahepatic biliary tract,True
2732,lung benign neoplasm,True
5278,serous adenocarcinoma,True
2113,peritoneal carcinoma,True
6029,cecum carcinoma,True
18511,epithelial tumor of the appendix,True
5522,small intestine carcinoma,True
5519,renal pelvis carcinoma,True
1487,intrahepatic bile duct cancer,True
3215,apocrine sweat gland cancer,True
2206,sweat gland cancer,True
21143,melanocytic neoplasm,True
3235_3932,optic nerve glioma,True
2640,optic nerve neoplasm,True
5635,adenomyoma,False
5004,clear cell adenocarcinoma,True
24890,pineal parenchymal cell neoplasm,True
21232,pineal body neoplasm,True
21355,neoplasm of esophagus,True
3250,benign granular cell tumor,True
21508,benign neoplasm of epicardium,True
3257,posterior pituitary gland neoplasm,True
21088_4373,papillary meningioma,True
21578,sternal neoplasm,True
3277,malignant ear neoplasm,True
21366,neoplasm of middle ear,True
21233,ear neoplasm,True
24320,inner ear neoplasm,True
11366,ovarian germ cell tumor,True
21521,benign neoplasm of mediastinum,True
4723,liver leiomyoma,True
4125,rectum leiomyoma,True
21469,benign neoplasm of anus,True
21514,benign neoplasm of pericardium,True
1092,colon leiomyoma,True
21465,benign neoplasm of appendix,True
3291,leiomyoma cutis,True
2173,neuroma,False
21065,pleural neoplasm,True
21251,endometrium neoplasm,True
37742,endometrioid stromal and related neoplasms,True
3314,endometrioid stromal and related neoplasms of the vagina,True
2140,vagina sarcoma,True
4710,uterus carcinoma in situ,True
5035,ganglioneuroblastoma (disease),True
3330,urinary tract obstruction,True
5602,ovarian teratoma,True
6980_3333,struma ovarii,True
18369,immature ovarian teratoma,True
6444,teratoma with malignant transformation,True
646,ovarian benign neoplasm,True
2562,demyelinating disease,True
17588,nail tumor,False
21541,hemangioma of retina,True
3210,intrahepatic cholangiocarcinoma,True
37740,"malignant central nervous system mesenchymal, non-meningothelial neoplasm",True
3352,colon sarcoma,True
2426,lung sarcoma,True
3379,rectum leiomyosarcoma,True
3361,small intestinal sarcoma,True
18506,mesenchymal tumor of small intestine,True
1204,esophagus sarcoma,True
1501,retroperitoneal sarcoma,True
5214,vulva sarcoma,True
2448,laryngeal sarcoma,True
3378,liver leiomyosarcoma,True
100070,neuroendocrine disease,True
6135,cervical clear cell adenocarcinoma,True
3200,urethra adenocarcinoma,True
4081,extrahepatic bile duct clear cell adenocarcinoma,True
45055,glycogen-rich carcinoma,True
5040,germ cell tumor,True
6036,granulosa cell tumor,True
2507,gingival overgrowth,True
5079,polyp,False
3401,central nervous system endodermal sinus tumor,True
2073,malignant pineal area germ cell neoplasm,True
4479,malignant childhood germ cell neoplasm,True
3750,childhood central nervous system germ cell tumor,True
3400,childhood endodermal sinus tumor,True
16739,yolk sac tumor of central nervous system,True
3403,testicular non-seminomatous germ cell cancer,True
44878,adult germ cell tumor,True
18171,malignant germ cell tumor of ovary,True
24888,mesonephric neoplasm,True
5613,mesonephric adenocarcinoma,True
6973,skin appendage carcinoma,True
2193,Bartholin gland benign neoplasm,True
6108,bile duct adenoma,True
21482,benign neoplasm of middle ear,True
1584,ocular motility disease,True
2533,papillary adenoma,True
3422,lung adenoma,True
3604,functioning pituitary gland neoplasm,True
6373,pituitary gland adenoma,True
6167,combined lung carcinoma,True
502,villous adenoma,True
3443,papillary urothelial neoplasm,True
24337,urothelial neoplasm,True
3426,clear cell adenoma,True
20204,conjunctival tumor,True
24475,squamous cell intraepithelial neoplasia,True
2060,intraductal papilloma,True
644,cervical benign neoplasm,True
24886,serous adenofibroma,True
5067,monophasic synovial sarcoma,True
2875,parasitic ectoparasitic infectious disease,True
21191,malignant ependymoma,True
21546,ependymal tumor of spinal cord,True
3002,dysgerminoma (disease),True
3408,ovarian primitive germ cell tumor,True
6102,basaloid carcinoma,True
18509,squamous cell carcinoma of the small intestine,True
6203,extrahepatic bile duct squamous cell carcinoma,True
3495,ovarian squamous cell neoplasm,True
5056,keratinizing squamous cell carcinoma,True
18534,squamous cell carcinoma of liver and intrahepatic biliary tract,True
2944,external ear carcinoma,True
21579,neoplasm of femur,True
952,cancer of long bone of lower limb,True
5207,choriocarcinoma (disease),True
2871,testicular trophoblastic tumor,True
16740,choriocarcinoma of the central nervous system,True
3392,fallopian tube germ cell tumor,True
20539,extragonadal non-dysgerminomatous germ cell tumor,True
21067,mediastinal germ cell tumor,True
40674,orgasm disorder,True
15062,"gastric neuroendocrine tumor, well differentiated, low or intermediate grade",True
3523,gastrin-producing neuroendocrine tumor,True
6939_1110,pyelonephritis,True
44789,digital papillary eccrine carcinoma,True
2512,papillary adenocarcinoma,True
24240,eccrine carcinoma,True
5590,breast ductal adenocarcinoma,True
24615,T-cell and NK-cell neoplasm,True
5157,lymphoid neoplasm,True
5525_3540,T-cell leukemia,True
6056,squamous cell breast carcinoma,True
6074,adenosquamous carcinoma,True
56815,liver adenosquamous carcinoma,True
3500,squamous cell bile duct carcinoma,True
3493,thymus squamous cell carcinoma,True
3490,ampulla of vater squamous cell carcinoma,True
6202,extrahepatic bile duct adenosquamous carcinoma,True
6157,colorectal adenosquamous carcinoma,True
18513,squamous cell carcinoma of colon,True
4053,bartholin gland squamous cell carcinoma,True
6198,endometrial squamous cell carcinoma,True
993,prostate squamous cell carcinoma,True
21239,urethra neoplasm,True
1834,visual pathway disease,True
16096,malignant non-dysgerminomatous germ cell tumor of ovary,True
5440,embryonal carcinoma,True
16248,familial ovarian cancer,True
44996,cerebral cortex disease,True
21119,non-functioning endocrine neoplasm,True
21120,functioning endocrine neoplasm,True
21237,adrenal medulla neoplasm,True
4005,rete ovarii adenoma,True
21091,papillary cystadenoma,True
21629,uterine ligament neoplasm,True
3295,leiomyomatosis,True
922,pelvic inflammatory disease,True
3631,cervical serous adenocarcinoma,True
603,autoimmune disease of cardiovascular system,True
2867,pancreatic cystadenocarcinoma,True
2810,pancreatic serous cystic neoplasm,True
6962,sebaceous adenocarcinoma,True
20581,benign PEComa,True
20588,lung PEComa,True
5236,xanthoma (disease),True
18666,hepatoblastoma,True
8171,nephrolithiasis,True
16231,capillary malformation,True
2623,pediatric osteosarcoma,True
6817,juxtacortical osteosarcoma,True
3634,proteinuria,True
3665,cervical endometrioid adenocarcinoma,True
4139,normocytic anemia,True
5026,endometrioid adenocarcinoma,True
3001,seminoma,False
5068,myocardial infarction (disease),True
515,bone chondrosarcoma,True
21378,neoplasm of endocardium,True
3664,hemolytic anemia,True
16700,anaplastic ependymoma,True
3633,malignant mesenchymoma,True
3460,clear cell adenofibroma,True
3464,cystadenofibroma,True
3695,ovarian clear cell adenofibroma,True
3693,clear cell cystadenofibroma,True
3698,penis verrucous carcinoma,True
4433,papillary carcinoma of the penis,True
3100,nerve plexus neoplasm,True
3614,intravenous leiomyomatosis,True
2503,adult astrocytic tumour,True
3173,brain stem astrocytic neoplasm,True
402,small cell carcinoma,True
3143,angiokeratoma,True
3715,bladder urachal carcinoma,True
3717,renal pelvis papillary tumor,True
6350,papillary transitional cell carcinoma,True
3719,renal pelvis neoplasm,True
2621_4176,extraosseous osteosarcoma,True
3121,middle cranial fossa meningioma,True
3724,non-proliferative fibrocystic change of the breast,True
3725,breast adenosis,True
3730,aleukemic leukemia,True
3405,adult central nervous system germ cell tumor,True
3516,adult teratoma,True
3733,central nervous system mature teratoma,True
3517,mature teratoma,True
3735,central nervous system immature teratoma,True
600,nosophobia,False
377,malignant Leydig cell tumor,True
3395,testicular granulosa cell tumor,True
6427,spindle cell melanoma,True
3744,spindle cell intraocular melanoma,True
3878,malignant choroid melanoma,True
3912,malignant ciliary body melanoma,True
4188,iris spindle cell melanoma,True
2299_2298,cutaneous glomangioma,True
44991,upper digestive tract disease,True
3751,childhood germ cell tumor,True
6353_3923_4327_4457,sinus Schneiderian papilloma,True
21483,benign neoplasm of frontal sinus,True
21475,benign neoplasm of nasal cavity,True
3757,paraplegia,False
37250,childhood testicular neoplasm,True
20577,childhood gonadal germ cell tumor,True
6344,ovarian yolk sac tumor,True
3760,pediatric ovarian germ cell tumor,True
3762,malignant leptomeningeal tumor,True
3761_3765,leptomeningeal melanoma,True
3057,pediatric meningioma,True
42494,childhood malignant melanoma,True
2270,viral gastritis,True
5794,Herpesviridae infectious disease,True
3772,cerebral meningioma,True
21109,inverted urothelial papilloma,True
21467,benign neoplasm of renal pelvis,True
21925,tracheobronchitis,True
16262,leiomyosarcoma of the corpus uteri,True
3356,epithelioid leiomyosarcoma,True
3508,choriocarcinoma of testis,True
3758,childhood testicular germ cell tumor,True
3120,mixed testicular germ cell cancer,True
6446,testicular embryonal carcinoma,True
3008,hereditary renal cell carcinoma,True
3791,prostatic urethral cancer,True
2834,primary prostate urothelial carcinoma,True
2836,urethra transitional cell carcinoma,True
4197,male urethral cancer,True
3812,ovarian endometrial cancer,True
2928,carcinosarcoma,True
24659,colorectal Kaposi sarcoma,True
21238,cornea neoplasm,True
45001,cardiac ventricle disease,True
3386,bladder clear cell adenocarcinoma,True
2480,endometrioid tumor,True
3819,childhood teratoma of the ovary,True
3820,mature ovarian teratoma,True
3821,ovarian biphasic or triphasic teratoma,True
3755,urinary tract non-invasive transitional cell neoplasm,True
3442,bladder papillary urothelial neoplasm,True
3825,kidney oncocytoma,True
6298,mediastinal malignant germ cell tumor,True
3668,extragonadal seminoma,True
16463,syndromic agammaglobulinemia,True
19927,growth hormone-producing pituitary gland neoplasm,True
2109,pituitary cancer,True
2395,renal adenoma,True
3829,chromophil adenoma of the kidney,True
15136,immunodeficiency due to a genetic complement cascade protein anomaly,True
4950,gastric carcinoma,True
1063,cardia cancer,True
3834,gastric cardia carcinoma,True
3837,TSH producing pituitary tumor,True
3429,functioning pituitary gland adenoma,True
24282,mucinous ovarian cancer,True
2991,adenocarcinofibroma,True
3841,heart lipoma,True
21450,benign neoplasm of heart,True
2505,childhood astrocytic tumor,True
21497,benign neoplasm of cerebrum,True
3843,cerebral hemisphere lipoma,True
3393,thymus gland disease,True
2892,skull base chordoma,True
6145,chondroid chordoma,True
3849,clivus chordoma,True
24648,optic tract meningioma,True
3863,malignant melanocytic neoplasm of the peripheral nerve sheath,True
3222,central nervous system melanocytic neoplasm,True
3109,foramen magnum meningioma,True
2914,childhood brain stem neoplasm,True
3869,childhood brain stem glioma,True
3813,ovarian papillary tumor,True
2362,serous surface papilloma,True
5211,ovarian serous adenocarcinoma,True
6700,choroid cancer,True
3214,apocrine adenocarcinoma,True
21462,benign neoplasm of rectum,True
2398,mucinous adenofibroma,True
3787,childhood testicular mixed germ cell cancer,True
3890,infiltrating bladder urothelial carcinoma,True
5611,bladder transitional cell carcinoma,True
40678,infiltrating urothelial carcinoma,True
2558,melanotic neurilemmoma,True
3126,breast hemangioma,True
3681_3899,myxoid chondrosarcoma,True
21507,benign neoplasm of brain stem,True
1731,benign vaginal mixed epithelial and mesenchymal neoplasm,True
5097,squamous cell lung carcinoma,True
2919,posterior cranial fossa meningioma,True
3910,mixed cell uveal melanoma,True
4064,iris melanoma,True
2969,ciliary body cancer,True
548,ovarian clear cell cancer,True
21515,benign neoplasm of ethmoidal sinus,True
21511,benign neoplasm of adrenal gland,True
36591,adrenal cortex neoplasm,True
3359,myxoid leiomyosarcoma,True
2194,vestibular papilloma,True
4071,childhood cerebral astrocytoma,True
21323,malignant neoplasm of chest wall,True
5606,tubular adenocarcinoma,True
45002,vertebral disease,True
5380,osteonecrosis,True
17885,chromophobe renal cell carcinoma,True
21168,hibernoma,False
3293,lung leiomyoma,True
3434,vaginal adenoma,True
2468,hyperimmunoglobulin syndrome,True
3428,brain hemangioma,True
2482,nipple neoplasm,True
4989,breast carcinoma,True
21472,benign neoplasm of scrotum,True
2063,breast papillomatosis,True
3248,adult pineal parenchymal tumor,True
3050,lung large cell carcinoma,True
5454,lung neuroendocrine neoplasm,True
2150,hypothalamic disease,True
4359,delusional disorder,True
2622,multifocal osteogenic sarcoma,True
3669,testicular seminoma,True
3444,intrahepatic bile duct adenoma,True
3982,bilateral breast carcinoma,True
3273,sternum cancer,True
3158,malignant myoepithelioma,True
6192,endometrial endometrioid adenocarcinoma,True
3204,villous adenocarcinoma,True
2578_3992_4012,botryoid rhabdomyosarcoma,True
3994,botryoid-type embryonal rhabdomyosarcoma of the vagina,True
16095,vaginal rhabdomyosarcoma,True
24660,tubular adenoma,True
2316,motor peripheral neuropathy,True
4007,breast intraductal proliferative lesion,True
2837,sarcomatoid transitional cell carcinoma,True
3514,malignant teratoma,True
24746,immature teratoma,True
4015_4016,pineal region teratoma,True
3578,extragonadal nonseminomatous germ cell tumor,True
3658,"B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma",True
60765,fibroepithelial polyp,True
6603,reactive cutaneous fibrous lesion,True
4010_20654_381,renal pelvis/ureter carcinoma,True
3811,ovarian seromucinous tumor,True
3342,benign perivascular tumor,True
44906,bladder urothelial papilloma,True
2221_4044,urethral urothelial papilloma,True
3077,intraocular retinoblastoma,True
3112,malignant gastric germ cell tumor,True
3513,gastric teratoma,True
3763,acute stress disorder,True
3729,aleukemic leukemia cutis,True
18515,squamous cell carcinoma of rectum,True
4055_4923,inflammation of lacrimal passage,True
4062,intermediate cell type uveal melanoma,True
4063,intermediate cell type iris melanoma,True
44970,mitochondrial disease,True
3887,ovarian mucinous adenofibroma,True
3886,mucinous cystadenofibroma,True
3427,bronchus adenoma,True
2355,glottis carcinoma,True
6200,epithelioid cell uveal melanoma,True
3486,basaloid squamous cell carcinoma,True
20656,human papillomavirus-related penile squamous cell carcinoma,True
4107_2966,splenic manifestation of leukemia,True
3402,testicular yolk sac tumor,True
2720,sella turcica neoplasm,True
21358,neoplasm of hypopharynx,True
4111,refractory hematologic cancer,True
24500,duodenal neuroendocrine neoplasm,True
56816,vulvar neuroendocrine carcinoma,True
44337,stromal sarcoma,True
27026,Buschke Lowenstein tumor,True
3960,pulmonary large cell neuroendocrine carcinoma,True
2518,gallbladder papillary neoplasm,True
3864,chronic lymphocytic leukemia/small lymphocytic lymphoma,True
18843,embryonal carcinoma of the central nervous system,True
4156,pancreatic mucinous cystadenocarcinoma,True
3296,cellular leiomyoma,True
1869,paraurethral gland cancer,True
21066,urinary system neoplasm,True
5182,serous cystadenofibroma,True
6340,ovarian serous adenofibroma,True
4187,nodular fasciitis,True
6209,fibroblastic neoplasm,True
19296,subcutaneous tissue disease,True
4830,fasciitis (disease),True
4191,nephrogenic adenoma,True
3481,dysgerminoma of ovary,True
4192,urethra cancer,True
2814,adrenal carcinoma,True
3606,adrenal medulla cancer,True
2536,skin papilloma,True
6407,sarcomatoid mesothelioma,True
3032,superior vena cava angiosarcoma,True
3145,supratentorial primitive neuroectodermal tumor,True
15067,"neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor",True
4211,L-cell glucagon-like peptide-producing neuroendocrine tumor,True
3463,ovarian endometrioid adenofibroma,True
2214,brain germinoma,True
4452,childhood central nervous system germinoma,True
6045,ovarian clear cell adenocarcinoma,True
21473,benign neoplasm of epididymis,True
18381,osteochondrosis,True
4244,proximal-type epithelioid sarcoma,True
17387_4060_4105_4521,epithelioid sarcoma,True
3266,ependymal tumor,True
43839,ulcer disease,True
20685,infratentorial ependymal tumor,True
20687,supratentorial ependymal tumor,True
3478,childhood ependymoma,True
3445,extrahepatic bile duct adenoma,True
3455,bile duct papillary neoplasm,True
16742,mixed germ cell tumor of central nervous system,True
21309,malignant neoplasm of endocervix,True
4262,breast myoepitheliosis,True
16715,ependymoblastoma,True
2798,childhood central nervous system primitive neuroectodermal neoplasm,True
3208,breast secretory carcinoma,True
2058,breast adenoma,True
2804,apocrine adenoma,True
6043,metaplastic breast carcinoma,True
4004,motor nerve neuritis,True
6189,eccrine porocarcinoma,True
3861,vulvar eccrine adenocarcinoma,True
6245,hidradenocarcinoma,True
5192,exocrine pancreatic carcinoma,True
2116,malignant exocrine pancreas neoplasm,True
2766,larynx verrucous carcinoma,True
4080,glottis squamous cell carcinoma,True
4291,subglottis squamous cell carcinoma,True
4358,subglottis carcinoma,True
4293,supraglottis squamous cell carcinoma,True
4357,carcinoma of supraglottis,True
3507,choriocarcinoma of ovary,True
6890,parathyroid gland adenoma,True
3421,mixed cell adenoma,True
3424,oncocytic adenoma,True
4308,meningeal sarcoma,True
4309,sarcomatosis,True
2795,adult central nervous system primitive neuroectodermal neoplasm,True
3975,Littre gland carcinoma,True
2291,cutaneous granular cell tumor,True
3363,malignant dermis tumor,True
3795,ovarian small cell carcinoma,True
5167,fibroma,False
37252,thecoma,False
21477,benign neoplasm of sphenoidal sinus,True
1748,maxillary sinus carcinoma,True
4286,pancreatic intraductal papillary-mucinous neoplasm,True
4285,pancreatic intraductal papillary-mucinous carcinoma,True
1378,urachus cancer,True
3639,lung hilum neoplasm,True
23206,functional pancreatic neuroendocrine tumor,True
2655,cutaneous Paget disease,True
2651,anal Paget disease,True
24341,retinal cell neoplasm,True
3072,retinal cancer,True
6346,pancreatic acinar cell carcinoma,True
4034,eye lymphoma,True
3078,extraocular retinoblastoma,True
2730,childhood kidney neoplasm,True
1724,supraglottis cancer,True
1293,subglottis cancer,True
3473,spinal cord ependymoma,True
20690,adult glioblastoma,True
4365,necrotic uveal melanoma,True
3268,mixed glioma,True
3262,rhabdoid meningioma,True
4334,non-functional pancreatic neuroendocrine tumor,True
6247,histiocytic and dendritic cell neoplasm,True
3236,atypical polypoid adenomyoma,True
3237,adenomyoma of uterine corpus,True
4398,mediastinal schwannoma,True
36501,refractory malignant neoplasm,True
3950,nipple carcinoma,True
4412,malignant spiradenoma,True
2997,anterior cranial fossa meningioma,True
3774,cerebral convexity meningioma,True
2979,papillary squamous carcinoma,True
3589,liposarcoma of the ovary,True
3581,ovarian embryonal carcinoma,True
6351,parachordoma,True
21388,neoplasm of chest wall,True
3752,frontal sinus Schneiderian papilloma,True
21484,benign neoplasm of maxillary sinus,True
6243,hepatoid adenocarcinoma,True
5032,follicular thyroid adenoma,True
24661,tubulovillous adenoma,True
42485,infective arthritis,True
2707,breast mucinous carcinoma,True
4109,epiglottis neoplasm,True
5216,hypopharyngeal carcinoma,True
6076,adrenal gland neuroblastoma,True
24502,gallbladder neuroendocrine neoplasm,True
3238,cervical adenomyoma,True
4491,uterine corpus choriocarcinoma,True
16273,malignant germ cell tumor of corpus uteri,True
43707,mediastinal disease,True
20225,syndromic cataract,True
24643,myocardial disorder,True
24636,inflammation of heart layer,True
591,intrinsic cardiomyopathy,True
4332,lung hilum cancer,True
6883,malignant superior sulcus neoplasm,True
3461,fallopian tube serous adenofibroma,True
6097,atypical lipomatous tumor,True
4141,melanomatosis,True
4389,mite infestation,True
21254,corpus uteri neoplasm,True
37745,fibromyxoid tumor,True
2585,"breast fibrocystic change, proliferative type",True
4322,non-gestational ovarian choriocarcinoma,True
6254,intestinal type adenocarcinoma,True
6134,cervical adenosquamous carcinoma,True
45056,grade II meningioma,True
4345,childhood malignant schwannoma,True
43579,enteritis,False
1229,small intestine diverticulitis,True
43905_2572_1255_3479_43919,pneumonitis,True
771,allergic respiratory disease,True
4555,kidney angiomyolipoma,True
2678,pediatric fibrosarcoma,True
3413,hair follicle neoplasm,True
42976,vitamin B deficiency,True
22519,autoimmune myocarditis,True
17853,hypersensitivity pneumonitis,True
5545,staphylococcus aureus infection,True
4595,acute pulmonary heart disease,True
4605,chronic ulcer of skin,True
4608,oropharynx cancer,True
21364,neoplasm of oropharynx,True
5515,oral cavity cancer,True
5286,palatal neoplasm,True
20675,ischemic bowel disease,True
5507,gingival cancer,True
4609,herpes simplex infectious disease,True
5898,paronychia (disease),True
5857,morbillivirus infectious disease,True
6834,lip cancer,False
4611,soft palate cancer,True
24415,hemorrhagic duodenitis,True
1126,gastric ulcer (disease),True
45057,delirium,False
21240,tongue neoplasm,True
5806,hypopharynx cancer,True
21333,carcinoma of lip,True
6998,tonsil cancer,True
20076,myeloproliferative neoplasm,True
21241,buccal mucosa neoplasm,True
20665,high grade malignant neoplasm,True
1627,dementia (disease),True
4652,bacterial pneumonia,True
21053_6104,carotid body paraganglioma,True
6311,myelodysplastic/myeloproliferative Neoplasm,True
1419,trachea squamous cell carcinoma,True
4693,squamous carcinoma in situ,True
4698,intestine carcinoma in situ,True
21242,sublingual gland neoplasm,True
44743,major salivary gland cancer,True
21357,tumor of salivary gland,True
43243,leukoplakia,True
602,autoimmune disease of blood,True
37744,neoplasm of retromolar area,True
16037,superficial Fibromatosis,True
20213,stromal corneal dystrophy,True
1661,background diabetic retinopathy,True
18407_20091,male infertility due to obstructive azoospermia,True
21243,parotid gland neoplasm,True
6111,bladder flat intraepithelial lesion,True
3930,non-invasive bladder urothelial carcinoma,True
4725,rectum carcinoma in situ,True
18531,carcinoma of liver and intrahepatic biliary tract,True
2514,hepatobiliary neoplasm,True
21244,submandibular gland neoplasm,True
6284,major salivary gland carcinoma,True
15798,inflammatory myofibroblastic tumor,True
2182,communication disorder,True
5206,renal carcinoma,True
37871,amino acid metabolism disease,True
17307,disorder of tyrosine metabolism,True
4737,homocystinuria (disease),True
5362,erectile dysfunction (disease),True
21380,neoplasm of myocardium,True
5756,ethmoid sinusitis,True
4773,iridocyclitis (disease),True
2970,ciliary body disease,True
6814,iritis (disease),True
4853,gonococcal endophthalmia,True
6322,non-neoplastic bile duct disorder,True
2776,external ear disease,True
15691,hypereosinophilic syndrome,True
4603,collagenopathy,True
4959,plasma cell neoplasm,True
5235,smoldering plasma cell myeloma,True
5002,chronic obstructive pulmonary disease,True
24647,urolithiasis,True
24879,metastatic carcinoma,True
2473,cystic kidney disease,True
5917,placenta disease,True
2815,acute myocarditis,True
15455,gonococcal conjunctivitis,True
100010,tendinopathy,True
4863,purulent endophthalmitis,True
4865,blue drum syndrome,True
4872_4873,hemorrhoid,False
2155,cholecystitis,True
24277,neonatal thrombocytopenia,True
4885,choroidal sclerosis,True
11782,angioid streaks,True
4883,hereditary choroidal atrophy,True
2643,vestibular disease,True
37792_45015_224,carbohydrate metabolism disease,True
15188,metabolic disease with intestinal involvement,True
19278,hair anomaly,True
5728,diaphragm disease,True
6607,sebaceous gland disease,True
4920,hydrocele,False
5631,actinomycosis,True
43885,eye infectious disease,True
4930_1996,steroid-induced glaucoma,True
19820,univentricular cardiopathy,True
5584,congenital left-sided heart lesions,True
21162,carotenemia,True
2889,orbital cancer,True
17594,indolent B-cell non-Hodgkin lymphoma,True
20596,mucin-producing carcinoma,True
44710,lip and oral cavity squamous cell carcinoma,True
5168,neoplasm of immature B and T cells,True
56806,non-small cell squamous lung carcinoma,True
5574,tauopathy,False
430,mature T-cell and NK-cell non-Hodgkin lymphoma,True
17143,genetic infertility,True
5494,triple-negative breast carcinoma,True
11118,bilineal acute myeloid leukemia,True
2267,obstructive lung disease,True
2926,clear cell sarcoma,True
5252,heart failure,True
21583,melanocytic skin neoplasm,True
21652,diffuse type adenocarcinoma,True
470,endocardium disease,True
16635,thrombotic disorder due to a platelet anomaly,True
6107,benign thyroid gland neoplasm,True
6316,neuroblastic tumor,True
44993,sympathetic nervous system disease,True
16729,mixed neuronal-glial tumor,True
15447,differentiated thyroid carcinoma,True
45024,cell proliferation disorder,True
6306,mixed lobular and ductal breast carcinoma,True
552,breast lobular carcinoma,True
5187,human herpesvirus 8 infection,True
15157,human herpesvirus 8-related tumor,True
17345,Epstein-Barr virus-associated mesenchymal tumor,True
2924,smooth muscle cancer,True
5374,bone marrow neoplasm,True
2813,lipomatous cancer,True
15757,lymphoid hemopathy,True
6856,mesothelial neoplasm,True
21195,disease by cellular process disrupted,True
24297,nutritional or metabolic disease,True
23370,neoplastic disease or syndrome,True
6349,papillary cystic neoplasm,True
21452,benign neoplasm of cornea,True
6105,benign conjunctival neoplasm,True
20753,Orthocoronavirinae infectious disease,True
2789,hemangiopericytic tumor,True
30701,autoimmune cardiomyopathy,True
17841,autoimmune disease with skin involvement,True
44983,benign lipomatous neoplasm,True
100321,viral disease or post-viral disorder,True
22034,lentivirus infection,True
21682,viral sexually transmitted disease,True
3308,pleural mesothelioma,True
25303,anaplasmosis,True
6923,Bacillaceae infectious disease,True
16104,infectious disease with peripheral neuropathy,True
588,autoimmune disease of gastrointestinal tract,True
568,autoimmune disease of central nervous system,True
6704,CNS demyelinating autoimmune disease,True
44347,erythrocyte disease,True
40732,Pseudomonas aeruginosa infectious disease,True
5379,neurotic disorder,True
569,autoimmune disease of endocrine system,True
611,pre-malignant neoplasm,True
21095,parkinsonian disorder,True
510,synucleinopathy,True
24474,intraepithelial neoplasia,True
5939,Reoviridae infectious disease,True
21178,injury,False
24885,malignant ovarian serous tumor,True
16123,muscular tumor,True
2847,skeletal muscle cancer,True
15667,unclassified acute myeloid leukemia,True
6617,vesiculobullous skin disease,True
5254,symptomatic heart failure,True
5258,autism spectrum disorder,True
5299,brain ischemia,True
605,hypersensitivity reaction disease,True
19453,refractory cytopenia with multilineage dysplasia,True
17181,hypnic headache (disease),True
5301,multiple sclerosis,True
21245,oral cavity neoplasm,True
1735,paranasal sinus disease,True
6693,cerebral arterial disease,True
837,bone resorption disease,True
37847,vertebral joint disease,True
21197,disease by cellular component affected,True
37747,spinal injury,True
5315,bone fracture,True
5479,atrial tachycardia,True
23557,infective vaginitis,True
6706,Bifidobacteriales infectious disease,True
766,corneal endothelial dystrophy,True
21681,sexually transmitted disease,True
44974,disease of supramolecular complex,True
21208,endocrine alopecia,True
20804,basal cell carcinoma,True
5334,hereditary nephritis,True
5786,Hepadnaviridae infectious disease,True
15933_15932_15619_15934,non-syndromic urogenital tract malformation,True
37940,inherited auditory system disease,True
5231,hepatitis C virus infection,True
6715,coronary stenosis,True
18087,viral hemorrhagic fever,True
18438,eosinophilic gastrointestinal disease,True
2134,physiological sexual disorder,True
2036,penile disease,True
5623,autoimmune thyroid disease,True
1104,toxic diffuse goiter,True
21945,hearing disorder,True
5344,hepatitis B virus infection,True
5530,opiate dependence,True
5047,infertility disorder,True
21246,pharynx neoplasm,True
2331,nephrosis,False
100086,perinatal disease,True
54868,meconium ileus,True
19297,lymphedema,False
5424,elephantiasis,True
5567,substance withdrawal syndrome,True
6597,photosensitivity disease,True
1967,gonadal dysgenesis,True
1336,familial hyperlipidemia,True
5155,cirrhosis of liver,True
5812,influenza,False
16708,embryonal tumor of neuroepithelial tissue,True
5277,migraine disorder,True
5477,ventricular tachycardia,True
5480,contact dermatitis,True
19183,inherited odontologic disease,True
1697,reading disorder,True
6513,estrogen-receptor negative breast cancer,True
616,progesterone-receptor negative breast cancer,True
618,Her2-receptor negative breast cancer,True
20125,acquired neuromuscular junction disease,True
24388,Clostridium infectious disease,True
18093,arbovirus fever,True
21086,gingival neoplasm,True
17742,disorder of O-xylosylglycan synthesis,True
21310,malignant tumor of neck,True
24665,indeterminate sex and/or pseudohermaphroditism,True
44919,malignant renal pelvis neoplasm,True
5011_5535,Crohn disease,True
5101,ulcerative colitis (disease),True
24644,myocardial ischemia,True
24313,staphylococcal infection,True
24317,chronic pain syndrome,True
30700,autoimmune glomerulonephritis,True
5617,undifferentiated carcinoma,True
2459_7004_25512,hypersensitivity disease,True
19512,congenital heart malformation,True
6233,gonadal teratoma,True
5608,varicella zoster infection,True
18521,squamous cell carcinoma of pancreas,True
16180,hematological disease associated with an acquired peripheral neuropathy,True
827,salmonellosis,True
18634,hereditary amyloidosis,True
20144,cerebrovascular dementia,True
18787,genetic cerebral small vessel disease,True
20142,metabolic disease with dementia,True
24315,parasitic endophthalmitis,True
6921,Actinomycetales infectious disease,True
24618,poliovirus infection,True
5109,HIV infectious disease,True
25371,Parvoviridae infectious disease,True
5985,Togaviridae infectious disease,True
5973,Strongylida infectious disease,True
5161,human papilloma virus infection,True
1674,diverticulitis of colon,True
3014_4514,rhinitis,False
5896,Paramyxoviridae infectious disease,True
5704,Ciliophora infectious disease,True
6924,Bartonellaceae infectious disease,True
5644,amebiasis,False
19362,epidemic louse-borne typhus,True
15141,disorder of medulla oblongata,True
5914,Picornaviridae infectious disease,True
2031,cecal disease,True
21697,chlamydia infectious disease,True
15659,infectious disease with epilepsy,True
15215,non-syndromic diaphragmatic or abdominal wall malformation,True
15879,non-syndromic diaphragmatic or thoracic malformation,True
4656,rubella,False
16511,infectious embryofetopathy,True
5989_5697,toxoplasmosis,True
5876,Nidovirales infectious disease,True
5718,Coronaviridae infectious disease,True
5747,enterovirus infectious disease,True
3781_5607_18597,bronchitis,False
263,laryngotracheitis,True
5707,coccidiosis,True
25082,"helminthiasis, animal",True
5994,trichostrongyloidiasis,True
16075,filariasis,False
5762,Filoviridae infectious disease,True
5871,Nematoda infectious disease,True
100030,adolescent/adult-onset epilepsy syndrome,True
415,adolescence-adult electroclinical syndrome,True
1812,parasitic eyelid infestation,True
20082,dendritic cell tumor,True
4380_19482,dendritic cell sarcoma,True
23149,infection due to clostridium perfringens,True
5229,bacterial infectious disease with sepsis,True
5609,herpes zoster,True
1989,atrophic glossitis,True
43953,burkholderia infectious disease,True
30603,Klebsiella infectious disease,True
5780,hantavirus infectious disease,True
6743,endocrine tuberculosis,True
369,abdominal tuberculosis,True
24571,AIDS-related disorder,True
21184,deltaretrovirus infections,True
6793,hyperpituitarism,True
19147,myiasis,False
5111_286,Epstein-Barr virus infection,True
5889,orthomyxoviridae infectious disease,True
21040,pancreatic neoplasm,True
44750,lassa virus infectious disease,True
5651,arenavirus hemorrhagic fever,True
21839,spirochaetales infections,True
5777,granuloma inguinale,True
18630,hereditary nonpolyposis colon cancer,True
4917,internal hordeolum,True
16494,regional variant of Guillain-Barre syndrome,True
589,autoimmune disease of musculoskeletal system,True
774,autoimmune neuropathy,True
16177,systemic inflammatory disease associated with an acquired peripheral neuropathy,True
15928,secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease,True
17137,onchocerciasis,True
5815,pancreatic neuroendocrine neoplasm,True
2884,nail disease,True
5899,parotid disease,True
24627,phagocytic cell dysfunction,True
5565,blastoma,False
6279,lung sarcomatoid carcinoma,True
15119,bronchopulmonary tumor,True
307,parasitic Ichthyosporea infectious disease,True
41850,pneumonia caused by gram negative bacteria,True
36696,spleen neoplasm,True
20601,mosquito-borne viral encephalitis,True
5114,pneumococcal infection,True
5980,tick infestation,True
2154,trichomoniasis,True
5922,pleural tuberculosis,True
5242,empyema,False
18667,pleural empyema (disease),True
11786_5324_24332,allergic rhinitis,True
1563,vestibulocochlear nerve disease,True
5944,Rhabdoviridae infectious disease,True
24934,fish disease,True
879,cutaneous candidiasis,True
7019,vulvovaginitis,True
5356,coronary vasospasm,True
41261,disorder of acid-base balance,True
6230,gastric squamous cell carcinoma,True
15220,syndrome with a central nervous system malformation as major feature,True
15335,orofacial clefting syndrome,True
5696,central nervous system tuberculosis,True
25370,urogenital neoplasm,True
45058,ACTH-producing pituitary gland neoplasm,True
551,retroperitoneal neuroblastoma,True
5043,hyperplasia,True
17341,virus associated tumor,True
21192,odontogenic neoplasm,True
2167,rectum malignant melanoma,True
3196,appendix carcinoma,True
6028,cecum adenocarcinoma,True
527,colon adenoma,True
21659,combined carcinoid and adenocarcinoma,True
6249,hyperplastic polyp,True
21400,polyp of colon,True
6126,cecum neuroendocrine tumor G1,True
6088,appendix adenoma,True
525,cecum villous adenoma,True
6155,colon neuroendocrine tumor G1,True
2486,lobular neoplasia,True
21468,benign neoplasm of adrenal medulla,True
4974,adrenal gland pheochromocytoma,True
21454,benign neoplasm of eye,True
3061,benign muscle neoplasm,True
3661,breast lymphoma,True
36688,rhabdomyoma,True
20325,anaplastic large cell lymphoma,True
20633,anaplastic cancer,True
44887,central nervous system non-hodgkin lymphoma,True
16726,neuronal tumor,True
16286,adenoid cystic carcinoma of the cervix uteri,True
6161,colorectal juvenile polyp,True
6162,colorectal neuroendocrine tumor G1,True
6165,colorectal squamous cell carcinoma,True
21392,polyp of large intestine,True
6231,gastrointestinal hamartoma,True
6160,colorectal hamartoma,True
6258,juvenile polyp,True
5073_44794,melanocytic nevus,True
15682,primary peritoneal tumor,True
21335,carcinoma of duodenum,True
2973,epithelioid cell melanoma,True
6352,paranasal sinus adenoid cystic carcinoma,True
3549,adenosquamous bile duct carcinoma,True
24478,mesenchymal hamartoma,True
24483,urothelial hyperplasia,True
21343,carcinoma of floor of mouth,True
44964,oral cavity mucoepidermoid carcinoma,True
21416,polyp of gallbladder,True
17128,inherited digestive tract tumor,True
6220,gallbladder squamous cell carcinoma,True
8277,stomach polyp,True
42493,gastric non-hodgkin lymphoma,True
24292,gastrointestinal polyp,True
5193,prostate intraepithelial neoplasia,True
6861,myeloid sarcoma,True
16784,gestational trophoblastic disease,True
540,small intestinal neuroendocrine tumor G1,True
5031,fibromatosis,True
2404,liver hemangioma,True
4695,liver lymphoma,True
6272,low grade fibromyxoid sarcoma,True
3194,hemangioma of lung,True
6403,salivary gland carcinoma ex pleomorphic adenoma,True
21009,salivary gland mucoepidermoid carcinoma,True
4202,adrenal medulla carcinoma,True
21064,jugulotympanic paraganglioma,True
45069,minor salivary gland carcinoma,True
2722,olfactory nerve neoplasm,True
6335,ovarian endometrioid adenocarcinoma,True
24387,benign ovarian sex cord-stromal tumor,True
5307,contracture,True
5893,pancreatic endocrine carcinoma,True
633,sensory organ benign neoplasm,True
21331,carcinoma of parotid gland,True
6285,major salivary gland carcinoma ex pleomorphic adenoma,True
44740,salivary gland squamous cell carcinoma,True
15683,primary malignant peritoneal tumor,True
6224,gastric hamartomatous polyp,True
6365,Peutz-Jeghers polyp,True
16685,low-grade astrocytoma,True
2178,placenta cancer,True
21498,benign neoplasm of placenta,True
6109,malignant biphasic mesothelioma,True
5599,malignant epithelioid mesothelioma,True
5112,malignant pleural mesothelioma,True
15818,aggressive primary cutaneous B-cell lymphoma,True
20644,lung non-Hodgkin lymphoma,True
2477,prostate neuroendocrine neoplasm,True
6221,gastric adenoma,True
21398,polyp of rectum,True
530,rectum adenoma,True
24662,colorectal tubulovillous adenoma,True
1852,small intestine lymphoma,True
19473,enteropathy-associated T-cell lymphoma,True
4724,submandibular gland cancer,True
18079,thymic epithelial neoplasm,True
535,tonsil squamous cell carcinoma,True
6478,undifferentiated pancreatic carcinoma,True
20653,vaginal adenocarcinoma,True
37746,malignant vaginal mixed epithelial and mesenchymal neoplasm,True
15867,vaginal carcinoma,True
1938,vulvar dystrophy,True
21460,benign neoplasm of salivary gland,True
19063,vascular anomaly,True
3996,basal ganglia disease,True
17763,disorder of iron metabolism and transport,True
6523,acrodermatitis,True
6533,cholesteatoma of middle ear,True
6530,cholesteatoma (disease),True
27766,generalized lipodystrophy,True
20087,genetic lipodystrophy,True
6574,lipomatosis,True
6541,epidermolysis bullosa,True
6619,viral exanthem,True
60766,anal polyp,False
19286,sebaceous gland anomaly,True
21653,cutaneous focal mucinosis,True
6594,pemphigus,False
2260,hidradenitis,True
45011,keratinization disease,True
6819,kernicterus,True
6584,neonatal jaundice,True
6570,lichen disease,True
5230,cellulitis (disease),True
6580,miliaria,False
5083,psoriasis,False
19337,autoimmune bullous skin disease,True
43771,radiodermatitis,True
6564,irritant dermatitis,True
19268,epidermal disease,True
2523,cutaneous mucinosis,True
21396,polyp of vulva,True
6563,inverted follicular keratosis,True
6622,vulvar seborrheic keratosis,True
15950,inherited skin tumor,True
6878,Moraxellaceae infectious disease,True
2492,acute kidney failure,True
15077,adrenal/paraganglial tumor,True
21312,malignant tumor of adrenal cortex,True
5433,alcohol withdrawal,True
2824,extrinsic cardiomyopathy,True
2679,cerebral infarction,True
4001,compartment syndrome,True
5523,steroid inherited metabolic disorder,True
15905,syndromic dyslipidemia,True
21661,coronary atherosclerosis,True
17131,genetic cardiac anomaly,True
20294,atrial defect and interatrial communication,True
565,infective endocarditis,True
6705,Bacteroidaceae infectious disease,True
6808,intracranial arterial disease,True
5346,gallstones,False
21258,choroid neoplasm,True
2989_2990,benign fibrous histiocytoma,True
6987,subvalvular aortic stenosis,True
4900,peripheral vertigo,True
3311,endometrial stromal tumor,True
5201,restrictive cardiomyopathy,True
21679,gram-positive bacterial infections,True
6751,Erysipelothrix infectious disease,True
1751,cholestasis,True
24913,cattle disease,True
17975,sex chromosome disorder of sex development,True
665,apraxia,False
5674,bone giant cell tumor,True
365,primary congenital glaucoma (disease),True
24468,anterior pituitary gland disease,True
6810,intracranial hypertension,True
45072,ectopic hormone secretion syndrome associated with neoplasia,True
2564,jejunal neoplasm,True
16999,X chromosome number anomaly,True
20090,male infertility due to gonadal dysgenesis,True
17641,miscellaneous movement disorder due to neurodegenerative disease,True
18926,human prion disease,True
1371,protein-energy malnutrition,True
6686,brain stem infarction,True
21249,lip neoplasm,True
5841,maxillary neoplasm,True
24263,neonatal aspiration syndrome,True
2508,gingivitis,False
24813,pulmonary sulcus neoplasm,True
18215,paraneoplastic neurologic syndrome,True
6904,phimosis,False
21463,benign neoplasm of parathyroid gland,True
40998,Pasteurella multocida infectious disease,True
44782,esophageal ulcer,True
19832,acquired pituitary hormone deficiency,True
1259,pituitary gland infarction,True
1316,streptococcal meningitis,True
6936,pulmonary valve stenosis,True
1786,uterine inflammatory disease,True
6682,brachial plexus neuritis,True
1459,radial neuropathy,True
2901,blood group incompatibility,True
2233,enamel caries,True
37735,sebaceous gland cancer,True
2372,ovarian monodermal and highly specialized teratoma,True
4978,aortic stenosis,True
6997,tibial neuropathy,True
21250,tonsil neoplasm,True
4685,Waldeyer's ring cancer,True
5297,urethritis (disease),True
6662,aseptic meningitis,True
7018,vulvitis,False
7023,Yersinia infectious disease,True
15495,otomandibular dysplasia associated with monogenic syndromes,True
15501,syndrome or malformation associated with head and neck malformations,True
15620,syndromic urogenital tract malformation,True
21005,faciodigitogenital syndrome,True
5350,abdominal aortic aneurysm,True
18559,fetal lower urinary tract obstruction,True
17432,syndrome with limb reduction defects,True
19294,mixed dermis disorder,True
18232,primary bone dysplasia with micromelia,True
19685,FGFR3-related chondrodysplasia,True
15322,Pierre Robin syndrome associated with bone disease,True
17676,marginal papular palmoplantar keratoderma,True
19292,dermis elastic tissue disorder,True
19271,acrokeratoderma,True
43007,genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome,True
17824,familial isolated pituitary adenoma,True
6238,growth hormone-producing pituitary gland adenoma,True
5391,restless legs syndrome,True
19707,primary osteolysis,True
15929,thoracic malformation,True
17434,"syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy",True
4983,azoospermia,True
15746,male infertility due to globozoospermia,True
19236,inborn disorder of purine metabolism,True
17855,T-B- severe combined immunodeficiency,True
16789,pyruvate metabolism disorder,True
20197,EEC syndrome and related syndrome,True
17139,oromandibular-limb hypogenesis syndrome,True
20276_20270,pigmentation disorder with eye involvement,True
16565,syndromic genetic obesity,True
20232,musculoskeletal disease with cataract,True
5,"alopecia, isolated",True
17666_17670_20093_20096_18250,diffuse palmoplantar keratoderma,True
20215,syndromic corneal dystrophy,True
17132,hereditary ATTR amyloidosis,True
5144,familial amyotrophic lateral sclerosis,True
405,anal canal cancer,True
18516,epithelial tumor of anal canal,True
18771,congenital anomaly of ventricular septum,True
15145,neurovascular malformation,True
20063,malformation syndrome with hamartosis,True
15658,cerebral diseases of vascular origin with epilepsy,True
6527,anhidrosis,False
20148,syndromic aniridia,True
20156,syndromic ankyloblepharon,True
19285,syndromic nail anomaly,True
19066,syndrome with brachydactyly,True
19211,isolated congenital anonychia,True
15246,syndromic anorectal malformation,True
19942,distal arthrogryposis,True
19686_19687,collagen-related bone disorder,True
22800,collagenopathy type 2 alpha 1,True
16227,hereditary episodic ataxia,True
17846,autosomal dominant spastic ataxia,True
100309,hereditary ataxia,True
19690,filamin-related bone disorder,True
19700,primary bone dysplasia with multiple joint dislocations,True
15385,external auditory canal aplasia/hypoplasia,True
42973,familial osteosclerosis,True
19715,syndrome with synostosis or other joint formation defect,True
16756,inherited nervous system cancer-predisposing syndrome,True
17957,unclassified autoinflammatory syndrome,True
15657,inflammatory and autoimmune disease with epilepsy,True
17261,systemic diseases with panuveitis,True
17370,autoinflammatory syndrome with skin involvement,True
19293,skin vascular disease,True
17260,systemic diseases with posterior uveitis,True
17259,systemic diseases with anterior uveitis,True
15488,predominantly large-vessel vasculitis,True
16229,genetic vascular anomaly,True
20286,aortic malformation,True
15331,malformation syndrome with skin/mucosae involvement,True
19703,primary bone dysplasia with increased bone density,True
19698_19699,bone dysplasia,True
19054,congenital limb malformation,True
15770_16553,congenital hypogonadotropic hypogonadism,True
18240,TRPV4-related bone disorder,True
15262,brachyolmia,True
15476,cysts and fistulae of the face and oral cavity,True
15852,excess breast volume or number,True
15855,isolated congenital breast hypoplasia/aplasia,True
17266,keratinopathic ichthyosis,True
17595,aggressive B-cell non-Hodgkin lymphoma,True
19702,neonatal osteosclerotic dysplasia,True
17428,congenital deformities of fingers,True
20042,"syndrome with 46,XY disorder of sex development",True
100237,inherited cutis laxa,True
24573,familial hypertrophic cardiomyopathy,True
17760,disorder of other vitamins and cofactors metabolism and transport,True
3615,nerve compression syndrome,True
16998,complex chromosomal rearrangement,True
20374,cerulean cataract,True
20375,coralliform cataract,True
20377_20376_20373_20372_20379_20378_21548_18610_18611,early-onset cataract,True
100196,TPM2-related myopathy,True
100150,RYR1-related myopathy,True
15765,congenital myopathy with cores,True
18591,ITM2B amyloidosis,True
2216,brain sarcoma,True
16950,partial duplication of the short arm of chromosome 17,True
17369,autoinflammatory syndrome with immune deficiency,True
18075,neural tube defect,True
15214,syndromic visceral malformation,True
17435,popliteal pterygium syndrome,True
20161_20463,congenital ectropion,True
18230,primary bone dysplasia,True
20018,cranial malformation,True
19697,mesomelic and rhizo-mesomelic dysplasia,True
16046,familial clubfoot with or without associated lower limb anomalies,True
19284,inherited isolated nail anomaly,True
17429,joint formation defects,True
43537,cluster headache syndrome,True
15,classic complement early component deficiency,True
18727,immunodeficiency due to a complement regulatory deficiency,True
27749,serpinopathy,True
8779,arthrogryposis,True
17310,Marfan and Marfan-related disorder,True
17762,disorder of copper metabolism,True
18888,congenital cornea plana,True
20212,superficial corneal dystrophy,True
763,epithelial and subepithelial corneal dystrophy,True
24471,non-inflammatory vasculopathy,True
17121,syndrome with a Dandy-Walker malformation as major feature,True
15704,familial scaphocephaly syndrome,True
17234,inherited prion disease,True
17662,miscellaneous movement disorder due to genetic neurodegenerative disease,True
20165,syndromic epicanthus,True
761,syndrome caused by partial chromosomal deletion,True
16887,partial deletion of the short arm of chromosome 5,True
15338,syndromic craniosynostosis,True
22904,cryofibrinogenemia,True
15491,immune complex mediated vasculitis,True
17038,secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis,True
20153_20360_20361,cryptophthalmia,True
16524,congenital vascular bone syndrome,True
1085,interstitial nephritis,True
17922,deafness-onychodystrophy syndrome,True
15547,genetic dementia,True
4985_693_24613_1866,bipolar disorder,True
6618,vibratory urticaria,True
4782,diabetes insipidus,True
19704,primary bone dysplasia with decreased bone density,True
16420,familial flecked retinopathy,True
6949,retinal drusen,True
20245,disease predisposing to age-related macular degeneration,True
20132,cranial nerve and nuclear aplasia,True
15083,nuclear oculomotor paralysis,True
15329,malformation syndrome with short stature,True
16516,Kenny-Caffey syndrome,True
118,reticulate pigment disorder,True
15990,"focal, segmental or multifocal dystonia",True
100184,GTP cyclohydrolase I deficiency,True
17756,disorder of pterin metabolism,True
43009,genetic lethal multiple congenital anomalies/dysmorphic syndrome,True
15216,syndromic diaphragmatic or abdominal wall malformation,True
15880,syndromic diaphragmatic or thoracic malformation,True
16329,familial syndrome associated with hypertrophic cardiomyopathy,True
15496,macroglossia,True
17891,inherited renal cancer-predisposing syndrome,True
19716,overgrowth syndrome,True
20023_15222_15221,respiratory or mediastinal malformation,True
15930,respiratory malformation,True
16365,familial primary hyperparathyroidism,True
18538,inherited digestive cancer-predisposing syndrome,True
19452,"myeloproliferative neoplasm, unclassifiable",True
20072,childhood-onset epilepsy syndrome,True
15643,photosensitive epilepsy,True
19299,unclassified genetic skin disorder,True
16028,erythromelalgia,True
1115,familial polycythemia,True
17893,inherited acute myeloid leukemia,True
19270,erythrokeratoderma,True
100240,inherited thrombophilia,True
100238,inherited Fanconi renotubular syndrome,True
15822,acquired neutropenia,True
18231,"primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments",True
4746,myopathy of extraocular muscle,True
19303,premature aging syndrome,True
15961,genetic head and neck malformation,True
16643,frontonasal dysplasia,True
5321,Fuchs' endothelial dystrophy,True
20244,unclassified primitive or secondary maculopathy,True
1341,selective IgA deficiency disease,True
19601,autosomal recessive axonal hereditary motor and sensory neuropathy,True
15617,genetic gastro-esophageal disease,True
18502,hereditary gastric cancer,True
17604,marginal zone lymphoma,True
15111,gastroesophageal disease,True
19628,Rieger anomaly,True
18174,hereditary glaucoma,True
16697,low grade ependymoma,True
19520,syndromic lymphedema,True
20218,goniodysgenesis,True
334,multinodular goiter,True
20117,alpha granule disease,True
15846,syndromic uterovaginal malformation,True
16629,hemorrhagic disorder due to a platelet anomaly,True
16375,acquired peripheral movement disorder,True
16894,partial deletion of the short arm of chromosome 16,True
16513,alpha-thalassemia-related diseases,True
19692,multiple epiphyseal dysplasia and pseudoachondroplasia,True
17953,hereditary periodic fever syndrome,True
1411,synostosis,False
167,Huntington disease and related disorders,True
20248_1457,vitreoretinal degeneration,True
20208,syndromic myopia,True
5510,hydronephrosis,True
15903,hyperalphalipoproteinemia,True
2408,hereditary hyperbilirubinemia,True
21026_19277,epidermal appendage anomaly,True
15902,major hypertriglyceridemia,True
34217,resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta,True
5333,hyperthyroxinemia,True
16892,partial deletion of the short arm of chromosome 10,True
15895,syndrome with hypoparathyroidism,True
16896,partial deletion of the short arm of chromosome 18,True
19827,disease associated with non-acquired combined pituitary hormone deficiency,True
19575,hypotrichosis simplex of the scalp,True
24304,ichthyosis vulgaris,True
15947_17262_17263,inherited ichthyosis,True
17274,autosomal ichthyosis syndrome with other associated signs,True
17339,exfoliative ichthyosis,True
19305,immune deficiency with skin involvement,True
18037,hyper-IgE syndrome,True
16910,partial deletion of the long arm of chromosome 11,True
18795,syndromic constitutional thrombocytopenia,True
19712,patellar dysostosis,True
15360,autosomal dominant hereditary axonal motor and sensory neuropathy,True
4617,recurrent hypersomnia,True
16235,complex vascular malformation with associated anomalies,True
20195,excretory apparatus of the lacrimal system anomaly,True
16907,partial deletion of the long arm of chromosome 8,True
15504,larynx anomaly,True
6053,renal leiomyoma,True
20297,Noonan syndrome and Noonan-related syndrome,True
19694,spondylodysplastic dysplasia,True
15333,progeroid syndrome,True
21630,lipoma of face,True
4670_5282_19561,lupus erythematosus,True
15939,systemic autoimmune disease,True
17119,syndrome with microcephaly as major feature,True
486,craniofacial dystonia,True
17017,primary interstitial lung disease specific to childhood due to alveolar vascular disorder,True
15185,intestinal polyposis syndrome,True
18188,genetic intestinal polyposis,True
16904,partial deletion of the long arm of chromosome 5,True
3005,macular retinal edema,True
17625_17626,familial primary hypomagnesemia with low or normal calcium,True
20211,syndromic keratoconus,True
20272,connective tissue disease with eye involvement,True
19044,tumor of hematopoietic and lymphoid tissues,True
21189,intestinal motility disease,True
18453,familial atypical multiple mole melanoma syndrome,True
24462,familial cutaneous melanoma,True
17198,osteopetrosis (disease),True
6744,endolymphatic hydrops,True
23757,meralgia paresthetica,True
15318,Pierre Robin syndrome associated with collagen disease,True
16056,isolated congenital microcephaly,True
11119,iridogoniodysgenesis,True
15210,syndromic gastroduodenal malformation,True
15160,multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome,True
20235,lens size anomaly,True
16797,multiple mitochondrial DNA deletion syndrome,True
19817,congenital mitral valve insufficiency and/or stenosis,True
42966,inherited mitral valve disease,True
15499,paralytic facial malformation,True
19281,isolated genetic hair shaft abnormality,True
16891,partial deletion of the short arm of chromosome 9,True
17965,"syndrome with 46,XX disorder of sex development",True
15830_15831,aplasia of the mullerian ducts,True
20240,syndromic retinitis pigmentosa,True
15355_15352_18894,distal hereditary motor neuropathy,True
5801,human T-lymphotropic virus 1 infectious disease,True
100036,variable age onset epilepsy,True
16117,muscular lipidosis,True
2921_19952_18701,congenital myopathy,True
18949,distal myopathy,True
16195,qualitative or quantitative defects of beta-myosin heavy chain (MYH7),True
18010_20122,idiopathic inflammatory myopathy,True
17021,secondary interstitial lung disease specific to childhood associated with a connective tissue disease,True
20274,onycho-patellar syndrome with eye involvement,True
15459,nasopharyngeal carcinoma,True
100084,alpha-actinopathy,True
5342,IgA glomerulonephritis,True
19741,familial cystic renal disease,True
16895,partial monosomy of the short arm of chromosome 17,True
15359_15361,hereditary demyelinating motor and sensory neuropathy,True
15134,constitutional neutropenia,True
20179,palpebral nevus,True
20205,bulbar conjunctival dermoid or conjunctival dermolipoma,True
15854,supernumerary breasts,True
12061,familial sick sinus syndrome,True
15650,epilepsy syndrome,True
20277,ectodermal malformation syndrome associated with ocular features,True
17136,omodysplasia,True
20478,Leber plus disease,True
16799,mitochondrial oxidative phosphorylation disorder with no known mechanism,True
43878,hereditary optic atrophy,True
20249,hereditary optic neuropathy,True
18385,osteochondrosis of genetic origin,True
21522,benign neoplasm of lower jaw bone,True
5166,osteoma (disease),True
21106,laminopathy,True
3281,ovarian cystic teratoma,True
5382,bone Paget disease,True
15213,non-syndromic visceral malformation,True
16120,myotonic syndrome,True
19119,muscular channelopathy,True
15227,non-syndromic limb malformation,True
2342,chondromalacia,True
16956,partial trisomy of the long arm of chromosome 5,True
19046,leukodystrophy,True
19232,inborn disorder of peptide metabolism,True
19301,metabolic disease with skin involvement,True
995,familial periodic paralysis,True
24238,cerebral degeneration,True
16382,hereditary poikiloderma,True
15856,syndromic breast hypoplasia/aplasia,True
447,autosomal dominant polycystic liver disease,True
17425,preaxial polydactyly of fingers,True
845,fibrous dysplasia,True
147,polyposis,False
20496,familial porencephaly,True
18398,female infertility due to a congenital hypogonadotropic hypogonadism,True
9,"inherited bleeding disorder, platelet-type",True
20732,progeria,False
82,pelvic organ prolapse,True
15651,neurocutaneous syndrome with epilepsy,True
100091,inherited pseudoxanthoma elasticum,True
20937,"contractures, pterygia, and variable skeletal fusions syndrome",True
2429,idiopathic interstitial pneumonia,True
15924,pulmonary arterial hypertension,True
1999_5149,pulmonary hypertension,True
1560_100239_1878,hypertrophic pyloric stenosis,True
17747,disorder of fucoglycosan synthesis,True
18790_18789_18788,COL4A1 or COL4A2-related cerebral small vessel disease,True
4338,retinal cell cancer,True
24280_18456,polyarticular arthritis,True
20119,X-linked syndromic intellectual disability,True
17168,benign epithelial tumor of salivary glands,True
15853,deficient breast volume or number,True
16187,qualitative or quantitative defects of desmin,True
727,scapuloperoneal myopathy,True
18549,late-onset scapuloperoneal muscular dystrophy with hyaline bodies,True
19629,sclerocornea (disease),True
18609,syndromic hereditary optic neuropathy,True
15310,syndromic optic nerve hypoplasia,True
15710,immune dysregulation disease with immunodeficiency,True
15135,primary immunodeficiency due to a genetic defect in innate immunity,True
18782,type 1 interferonopathy,True
17914_17915,pure or complex spastic paraplegia,True
15087,autosomal dominant complex spastic paraplegia,True
17059,neural tube closure defect,True
15362,autosomal dominant distal hereditary motor neuropathy,True
8813,arachnoid cyst,True
723,stutter disorder,True
21029,genetic sebaceous gland anomaly,True
6988,sulfhemoglobinemia,True
762,syndrome caused by partial chromosomal duplication,True
722,non-syndromic synpolydactyly,True
1708,pulmonary sarcoidosis,True
17023,secondary interstitial lung disease specific to childhood associated with a granulomatous disease,True
20163,canthal anomaly,True
19691,short rib dysplasia,True
2249,thrombocytosis disease,True
15679,autosomal thrombocytopenia with normal platelets,True
100241,inherited thrombocytopenia,True
1222,congenital T-cell immunodeficiency,True
6460,thyroglossal duct cyst,True
19859,congenital thyroid malformation without hypothyroidism,True
9043,generalized resistance to thyroid hormone,True
1641,severe pre-eclampsia,True
15207,non-syndromic esophageal malformation,True
3233,essential tremor,True
19282,syndromic hair shaft abnormality,True
20051,total autosomal trisomy,True
16168,cryopyrin-associated periodic syndrome,True
19723,disease of glomerular basement membrane,True
100014,autoimmune retinopathy,True
15161,multiple congenital anomalies/dysmorphic syndrome without intellectual disability,True
15208,syndromic esophageal malformation,True
17427,congenital deformities of limbs,True
17329,familial vesicoureteral reflux,True
19220,inborn disorder of cobalamin metabolism and transport,True
15079,multiple polyglandular tumor,True
15748,hereditary mucosal leukokeratosis,True
16906,partial deletion of the long arm of chromosome 7,True
17656,motor stereotypies,True
3321,hereditary Wilms tumor,True
16893,partial deletion of the short arm of chromosome 11,True
16886,partial deletion of the short arm of chromosome 4,True
1713,inherited aplastic anemia,True
20103,constitutional hemolytic anemia due to acanthocytosis,True
15180,intestinal disease due to fat malabsorption,True
20044_20046_15244_20047,autosomal recessive cerebellar ataxia,True
17774,hypobetalipoproteinemia,True
20281,metabolic disease with pigmentary retinitis,True
20154,microblepharon-ablephara syndrome,True
16987,neuroacanthocytosis,True
7035,acanthosis nigricans (disease),True
17421,non-syndromic terminal limb defects,True
2561,lysosomal storage disease,True
17764,disorder of zinc metabolism,True
19824,non-acquired pituitary hormone deficiency,True
17714,acyl-CoA dehydrogenase deficiency,True
20531,long chain acyl-CoA dehydrogenase deficiency,True
19595,"46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect",True
21124,female infertility,True
18479_19847_23601_60783,congenital adrenal hyperplasia,True
19593,"46,XX disorder of sex development induced by fetal androgens excess",True
15129_15130,chronic primary adrenal insufficiency,True
40653,autosomal recessive ocular albinism,True
16501,Hermansky-Pudlak syndrome with pulmonary fibrosis,True
20489_11754,familial hyperreninemic hypoaldosteronism,True
45012,steroid metabolism disease,True
20203,pigmented conjunctival lesion,True
16402,mitochondrial disease with epilepsy,True
16808,"mitochondrial DNA depletion syndrome, hepatocerebral form",True
16403,mitochondrial disease with peripheral neuropathy,True
16790,tricarboxylic acid cycle disorder,True
19229,inborn disorder of ketolysis,True
19215,classic organic aciduria,True
16337,syndrome associated with dilated cardiomyopathy,True
22410,retinal ciliopathy,True
22409,nephropathy-associated ciliopathy,True
15962,inherited renal tubular disease,True
17351,inborn disorder of lysine and hydroxylysine metabolism,True
104,"anemia, hypochromic microcytic with iron overload",True
20098,constitutional anemia due to iron metabolism disorder,True
105,"anemia, nonspherocytic hemolytic",True
819,anencephaly,True
11679,"craniosynostosis syndrome, autosomal recessive",True
4731,central sleep apnea syndrome,True
19175,primary lymphedema,True
15364_15358,"hereditary sensory, motor and autonomic neuropathy",True
17118,syndrome with a cerebellar malformation as major feature,True
17104,central nervous system cystic malformation,True
4739,urea cycle disorder,True
17069,spina bifida cystica,True
16397,lysosomal disease with epilepsy,True
19251,oligosaccharidosis,True
18677,visceral heterotaxy,True
20768,X-linked deafness,True
16612,X-linked cerebellar ataxia,True
20045,autosomal recessive cerebellar ataxia due to a DNA repair defect,True
15131,congenital combined immunodeficiency,True
1334,hypertrichosis of eyelid,True
20159,congenital entropion,True
18814,non-severe combined immunodeficiency,True
19146,inherited susceptibility to mycobacterial diseases,True
15126,polyendocrinopathy,True
15951,hereditary photodermatosis,True
19216,inborn disorder of amino acid absorption and transport,True
19718_22723,chondrodysplasia,True
15489,predominantly medium-vessel vasculitis,True
18288,congenital disorder of glycosylation with hepatic involvement,True
17740,disorder of protein N-glycosylation,True
16328,fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy,True
17716,disorder of carnitine cycle and carnitine transport,True
16336,fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy,True
16327,mitochondrial disease with hypertrophic cardiomyopathy,True
16801,mitochondrial substrate carrier disorder,True
20231,cardiac disease with cataract,True
18120_18118_18119_18117,"disorder of phospholipids, sphingolipids and fatty acids biosynthesis",True
20233,dentocutaneous disease with cataract,True
17114_15915,cerebellar malformation,True
20043,autosomal recessive congenital cerebellar ataxia,True
20143,cerebral lipidosis with dementia,True
20280,metabolic disease with cataract,True
45016,cholesterol catabolic process disease,True
22687_4742,cerebellar degeneration,True
16405,sterol metabolism disorder with epilepsy,True
15581,bile acid synthesis defect with cholestasis and malabsorption,True
18042,immunodeficiency syndrome with abnormal pigmentation,True
20118,dense granule disease,True
17305,syndromic oculocutaneous albinism,True
17739,disorder of lysosomal-related organelles,True
15178,congenital intestinal transport defect,True
20237,lens shape anomaly,True
18036,immunodeficiency due to absence of thymus,True
19240,sterol biosynthesis disorder,True
2597,notochordal tumor,True
15369,Joubert syndrome and related disorders,True
15699,immunodeficiency due to a classical component pathway complement deficiency,True
15167,amniotic band syndrome,True
1328,thyroid hormone resistance syndrome,True
20529,ACTH-independent Cushing syndrome,True
20528,ACTH-dependent Cushing syndrome,True
100126,P5CS deficiency,True
16805,isolated oxidative phosphorylation complex disorder,True
66,mitochondrial complex deficiency,True
20134,cystic malformation of the posterior fossa,True
20130,malformation of the cerebellar vermis,True
2441,Jervell-Lange Nielsen syndrome,True
10779,mitochondrial non-syndromic sensorineural deafness,True
19126,intractable diarrhea of infancy,True
19688,sulfation-related bone disorder,True
19238,inborn disorder of pyrimidine metabolism,True
17688,disorder of glycolysis,True
20106,hemolytic anemia due to a disorder of glycolytic enzymes,True
15181,congenital intestinal disease due to an enzymatic defect,True
17706,disorder of carbohydrate absorption and transport,True
4905,intestinal disaccharidase deficiency,True
15212,syndromic intestinal malformation,True
17759,disorder of catecholamine synthesis,True
15211,non-syndromic intestinal malformation,True
15209,non-syndromic gastroduodenal malformation,True
15366,autosomal recessive hereditary sensory and autonomic neuropathy,True
17749,disorder of multiple glycosylation,True
19689,perlecan-related bone disorder,True
15778,syndromic hypothyroidism,True
16198,qualitative or quantitative defects of plectin,True
100029,antibody mediated epilepsy,True
20113,red cell aplasia,True
16628,hemorrhagic disorder due to a coagulation factors defect,True
20586,factor V deficiency,True
15722,congenital vitamin K-dependent coagulation factors deficiency,True
2244,factor VII deficiency,True
2247,factor X deficiency,True
16555,transient congenital hypothyroidism due to maternal factor,True
15323,teratogenic Pierre Robin syndrome,True
16677,toxic or drug-related embryofetopathy,True
20111,constitutional megaloblastic anemia due to folate metabolism disorder,True
17313,disorder of folate metabolism and transport,True
18035,syndrome with combined immunodeficiency,True
15179,intestinal disease due to vitamin absorption anomaly,True
17689,disorder of fructose metabolism,True
19225,gluconeogenesis disorder,True
16326,lysosomal disease with hypertrophic cardiomyopathy,True
40566,inherited glutathione metabolism disease,True
20105,hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies,True
18241,primary short bowel syndrome,True
16341,lysosomal disease with restrictive cardiomyopathy,True
17037,secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease,True
17024,secondary interstitial lung disease specific to childhood associated with a metabolic disease,True
18944,gestational trophoblastic neoplasm,True
6507,hereditary hemochromatosis,True
16361,isolated hereditary giant platelet disorder,True
15624_17186_19265_15625_17187,diazoxide-resistant hyperinsulinism,True
129,glutaric aciduria (disease),True
17753,"disorder of peroxisomal alpha-, beta- and omega-oxidation",True
19241,inborn disorder of the gamma-glutamyl cycle,True
23258,glycogen storage disease type 1 due to SLC37A4 mutation,True
17738,lysosomal glycogen storage disease,True
16118,muscular glycogenosis,True
16325,glycogen storage disease with hypertrophic cardiomyopathy,True
18402,female infertility due to gonadal dysgenesis,True
17961,"46,XX disorder of gonadal development",True
17035,secondary interstitial lung disease in childhood and adulthood associated with a systemic disease,True
30703,autoimmune vasculitis,True
15490,predominantly small-vessel vasculitis,True
16632,thrombotic disorder due to a coagulation factors defect,True
17687,disorder of neutral amino acid transport,True
15653,monogenic epilepsy,True
19228,inborn disorder of histidine metabolism,True
698,gamma-amino butyric acid metabolism disorder,True
16399,amino acid or protein metabolism disease with epilepsy,True
2045,communicating hydrocephalus,True
37870,valine metabolism disease,True
17350,inborn disorder of tryptophan metabolism,True
19705,primary bone dysplasia with defective bone mineralization,True
4,adrenocortical insufficiency,True
15709,immunodeficiency syndrome with autoimmunity,True
17693,glycogen storage disease due to glycogen synthase deficiency,True
100343,antenatal Bartter syndrome,True
15708,immuno-osseous dysplasia,True
15877,malformative syndrome with dentinogenesis imperfecta,True
858,neuronal intestinal dysplasia,True
15978,functional neutrophil defect,True
6825,kuru,False
16796,"mitochondrial DNA depletion syndrome, encephalomyopathic form",True
6040,lactic acidosis,True
24626,defective phagocytic cell engulfment,True
17713,disorder of fatty acid oxidation and ketogenesis,True
16961,partial duplication of the long arm of chromosome 10,True
18424,inherited lipoic acid biosynthesis defect,True
17624,familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis,True
1567,nephrocalcinosis,True
17717,metabolic disease due to other fatty acid oxidation disorder,True
20228,cataract associated with a metabolic disease,True
19242,inborn disorder of branched-chain amino acid metabolism,True
5308,ciliopathy,False
20229,cerebral disease with cataract,True
16136,cerebellar ataxia with peripheral neuropathy,True
152,thiamine-responsive dysfunction syndrome,True
20112,vitamin B12- and folate-independent constitutional megaloblastic anemia,True
18233,otopalatodigital syndrome spectrum disorder,True
734,Ohdo syndrome and variants,True
17390,methylmalonic acidemia without homocystinuria,True
15132,immunodeficiency predominantly affecting antibody production,True
15182,congenital enteropathy involving intestinal mucosa development,True
31178,monosomy 7 myelodysplasia and leukemia syndrome,True
17415,multiple pterygium syndrome,True
16152,qualitative or quantitative defects of calpain,True
16145,qualitative or quantitative defects of dysferlin,True
16143,qualitative or quantitative defects of gamma-sarcoglycan,True
16334,neuromuscular disease with dilated cardiomyopathy,True
100225,collagen 6-related myopathy,True
16153,qualitative or quantitative defects of TRIM32,True
16109,autosomal recessive distal myopathy,True
18743,immune-mediated acquired neuromuscular junction disease,True
44977,disease of receptor activity,True
21016,channelopathy,True
607,primary cutaneous T-cell non-Hodgkin lymphoma,True
15610,acquired aplastic anemia,True
37858,inherited fatty acid metabolism disorder,True
17718,mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes,True
18889,hyaline body myopathy,True
16121,congenital myotonia,True
16151,qualitative or quantitative defects of perlecan,True
17129,inherited cardiac tumor,True
20265,mitochondrial disease with eye involvement,True
20257,supranuclear oculomotor palsy,True
16578,mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies,True
2350,familial nephrotic syndrome,True
5803_18619,hyperinsulinemic hypoglycemia,True
17271,autosomal ichthyosis syndrome with prominent hair abnormalities,True
20267,genetic keratinization disorder associated with ocular features,True
20282,metabolic disease with macular cherry-red spot,True
15204,microlissencephaly,True
18720_18717,cystic lymphatic malformation,True
17919,bladder exstrophy-epispadias-cloacal exstrophy complex,True
17356,inborn disorder of ornithine metabolism,True
20241,unclassified familial retinal dystrophy,True
16620_6965,hypertrophic osteoarthropathy,True
45052,benign osteogenic neoplasm,True
18104,Torg-Winchester syndrome,True
17954,pyogenic autoinflammatory syndrome,True
4619,measles,False
44764,benign choroid plexus neoplasm,True
18605,disorders of pentose/polyol metabolism,True
17708,mevalonate kinase deficiency,True
20109,constitutional megaloblastic anemia due to vitamin B12 metabolism disorder,True
19233,peroxisomal beta-oxidation disorder,True
5518,pseudohermaphroditism,True
17969,"46,XY disorder of sex development of endocrine origin",True
17306,disorder of phenylalanine metabolism,True
45014,tetrahydrobiopterin metabolic process disease,True
16543,hyperphenylalaninemia due to tetrahydrobiopterin deficiency,True
17320,phosphoenolpyruvate carboxykinase deficiency,True
20703,erythroid neoplasm,True
16540,congenital secondary polycythemia,True
19662,"short rib-polydactyly syndrome, Majewski type",True
20585,anemia due to erythrocyte enzyme disorder,True
19596,"46,XY disorder of sex development due to testicular steroidogenesis defect",True
16398,peroxisomal disease with epilepsy,True
20041,"46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue",True
17323,hypocalcemic rickets,True
16340,familial restrictive cardiomyopathy,True
15052,primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies,True
20291,hypoplastic right heart syndrome,True
20287,pulmonary artery or pulmonary branch anomaly,True
6840,lymphangiectasis,True
18554,pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis,True
19237,inborn disorder of pyridoxine metabolism,True
20107,hemolytic anemia due to an erythrocyte nucleotide metabolism disorder,True
5287,developmental disability,True
100131,pediatric acute respiratory distress syndrome,True
17016,primary interstitial lung disease specific to childhood due to alveolar structure disorder,True
20504,genetic recurrent myoglobinuria,True
20160,secondary entropion,True
17720,GM2 gangliosidosis,True
45020,glycine metabolism disease,True
17103,encephaloclastic disorder,True
15655,cerebral malformation with epilepsy,True
17744,disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis,True
20210,syndromic hyperopia,True
17736,disorder of sialic acid metabolism,True
20227,systemic disease with cataract,True
17971,"46,XY disorder of sex development due to a cholesterol synthesis defect",True
45017,cholesterol biosynthetic process disease,True
17847,autosomal recessive spastic ataxia,True
18662,autosomal recessive brachyolmia,True
17686,inborn aminoacylase deficiency,True
20392,discrete fixed membranous subaortic stenosis,True
16428,multiple sclerosis variant,True
17966,"46,XY disorder of gonadal development",True
18202,gonadal germ cell tumor,True
19856,primary congenital hypothyroidism without thyroid developmental anomaly,True
5364,Graves disease,True
16240,hemimelia,False
15611,neutral lipid storage disease,True
16400,metal transport or utilization disorder with epilepsy,True
18558,syndrome with woolly hair,True
17748,inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation,True
425,X-linked disease,True
18496,ARX-related encephalopathy-brain malformation spectrum,True
19586,X-linked nonsyndromic deafness,True
20491,subcortical band heterotopia,True
44749,X-linked congenital stationary night blindness,True
16160,X-linked intellectual disability-epilepsy syndrome,True
100148,X-linked complex neurodevelopmental disorder,True
15920,syndromic neurometabolic disease with X-linked intellectual disability,True
17007,partial deletion of the long arm of chromosome X,True
20216,secondary dysgenetic glaucoma,True
17010,partial duplication of the long arm of chromosome X,True
17916,pure or complex X-linked spastic paraplegia,True
16088,hypoxanthine-guanine phosphoribosyltransferase deficiency,True
456,cerebral creatine deficiency syndrome,True
44200,T-B+ severe combined immunodeficiency,True
100146,ATP6AP2-related disorder,True
20836,"autism, susceptiblity to",True
18451,X-linked distal hereditary motor neuropathy,True
5489,dyslexia (disease),True
15150,complex hereditary spastic paraplegia,True
17004,partial monosomy of the short arm of chromosome X,True
21944,auditory neuropathy,True
19219,inborn disorder of neurotransmitter metabolism and transport,True
17304,ocular albinism (disease),True
100039,CDKL5 disorder,True
20070,neonatal epilepsy syndrome,True
43209,albinism,False
19948,reducing body myopathy,True
17912,X-linked pure spastic paraplegia,True
17009,partial duplication of the short arm of chromosome X,True
100089,GATA1-Related X-Linked Cytopenia,True
17886,MIT family translocation renal cell carcinoma,True
100124,NAA10-related syndrome,True
100000,MED12-related intellectual disability syndrome,True
16980,ATR-X-related syndrome,True
16803,unspecified inborn mitochondrial disorder,True
19351,isolated spina bifida,True
20175,malignant tumor of palpebral epidermis,True
16335,mitochondrial disease with dilated cardiomyopathy,True
20339,X-linked complex spastic paraplegia,True
14,"colorblindness, partial",True
16802,mitochondrial protein import disorder,True
19787_15174_33862,autoimmune enteropathy,True
100152,DKC1-related disorder,True
19227,inborn disorder of glycerol metabolism,True
20604,X-linked dominant disease,True
17269,X-linked ichthyosis syndrome,True
19256,sterol metabolism disorder,True
15975,hyper-IgM syndrome with susceptibility to opportunistic infections,True
136,keratosis follicularis spinulosa decalvans,True
20230,renal disease with cataract,True
20219,corneogoniodysgenesis,True
15921,ARX-related epileptic encephalopathy,True
16196,qualitative or quantitative defects of emerin,True
16154,qualitative or quantitative defects of myotubularin,True
18187,genetic syndromic Pierre Robin syndrome,True
17057,hereditary thrombocytopenia with normal platelets,True
16492,beta-thalassemia with other manifestations,True
15989,congenital valvular dysplasia,True
25445,Wieacker-Wolff syndrome (spectrum),True
428,Y-linked disease,True
10595,Sertoli cell-only syndrome,True
33304,"nonsyndromic deafness, Y-linked",True
2478,mixed germ cell-sex cord-stromal tumor,True
16794,maternally-inherited mitochondrial myopathy,True
16298,postlingual non-syndromic genetic deafness,True
16297,prelingual non-syndromic genetic deafness,True
16793,mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA,True
16792,mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA,True
4675,mitochondrial encephalomyopathy,True
16795,mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA,True
16226,specific language disorder,True
18831,HTRA1-related cerebral small vessel disease,True
18639,caudal regression-sirenomelia spectrum,True
16191,qualitative or quantitative defects of titin,True
16108,autosomal dominant distal myopathy,True
16901,partial deletion of the long arm of chromosome 2,True
5115,temporal lobe epilepsy,True
30,"epilepsy, nocturnal frontal lobe",True
5579,"epilepsy, idiopathic generalized",True
44338,autoimmune primary ovarian failure,True
16110,non-dystrophic myopathy,True
15825,obesity due to congenital leptin resistance,True
19006,familial idiopathic steroid-resistant nephrotic syndrome,True
16199,qualitative or quantitative defects of protein SERCA1,True
16058_43969,paroxysmal dystonia,True
100080,cardioectodermal syndrome,True
5217,familial cardiomyopathy,True
16587,arrhythmogenic right ventricular cardiomyopathy,True
16144,qualitative or quantitative defects of delta-sarcoglycan,True
21060,RASopathy,False
17090,midline cerebral malformation,True
18796,isolated constitutional thrombocytopenia,True
19460,acute leukemia of ambiguous lineage,True
20217,secondary dysgenetic glaucoma associated with neural crest cell migration anomaly,True
2470,photosensitive trichothiodystrophy,True
19717,chromosomal disease with overgrowth,True
16933,partial trisomy/tetrasomy of the short arm of chromosome 12,True
16916,partial deletion of the long arm of chromosome 18,True
19010,congenital isolated hyperinsulinism,True
16192,qualitative or quantitative defects of telethonin,True
19071,pure hair and nail ectodermal dysplasia,True
20146,major induction processes eye anomaly,True
16911,partial deletion of the long arm of chromosome 13,True
18291,congenital disorder of glycosylation with intestinal involvement,True
2114,pancreas lymphoma,True
18303_476,generalized dystonia,True
100100,SELENON-related myopathy,True
6412,sinus histiocytosis with massive lymphadenopathy,True
24664,"hypertension, pregnancy-induced",True
16215,spastic quadriplegia,True
15088,autosomal dominant pure spastic paraplegia,True
15505,tracheal anomaly,True
19714,"non-syndromic polydactyly, syndactyly and/or hyperphalangy",True
100175,TTN-related myopathy,True
18024,hydroa vacciniforme,True
100234,paroxysmal familial ventricular fibrillation,True
8264_19511,autosomal dominant medullary cystic kidney disease with or without hyperuricemia,True
19747,hematological disorder with renal involvement,True
17146,sickle cell disease and related diseases,True
17144,alpha-thalassemia and related diseases,True
984_44210,thalassemia,True
16949,partial duplication of the short arm of chromosome 16,True
17627,congenital hereditary facial paralysis-variable hearing loss syndrome,True
93,"Schistosoma mansoni infection, susceptibility",True
20220,corneoiridogoniodysgenesis,True
6909,pituitary dwarfism,True
14471,mitochondrial proton-transporting ATP synthase complex deficiency,True
16142,qualitative or quantitative defects of beta-sarcoglycan,True
15363,autosomal recessive distal hereditary motor neuropathy,True
15487,fatal infantile encephalocardiomyopathy,True
20180,palpebral piliary tumor,True
33352,"neuropathy, congenital hypomelinating",True
15976,hyper-IgM syndrome without susceptibility to opportunistic infections,True
17302,qualitative or quantitative defects of troponin,True
153,transposition of the great arteries,True
397,ataxic cerebral palsy,True
100064,tyrosine hydroxylase deficiency,True
4955,metabolic syndrome,True
17338,fatal multiple mitochondrial dysfunctions syndrome,True
19541_17634,non-infectious uveitis,True
16602,citrin deficiency,True
16200,qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -,True
19231,inborn disorder of pentose phosphate metabolism,True
16920,partial deletion of the long arm of chromosome 22,True
16538,hypotonia-cystinuria syndrome type 1,True
351,disorder of methionine catabolism,True
3337,acute hemorrhagic encephalitis,True
17173,non-syndromic male infertility due to sperm motility disorder,True
188,GLUT1 deficiency syndrome,True
16223,infantile hemangioma of rare localization,True
5130,celiac disease,True
18758,familial patent arterial duct,True
16798,ataxia neuropathy spectrum,True
19806,primary progressive aphasia,True
5452,bulimia nervosa,True
20702_44742,epidermolytic ichthyosis,True
8004,familial mitral valve prolapse,True
100228,LAMA2-related muscular dystrophy,True
16883,partial deletion of the short arm of chromosome 1,True
166,"encephalopathy, acute, infection-induced",True
16141,qualitative or quantitative defects of alpha-sarcoglycan,True
20057,uniparental disomy of paternal origin,True
21311,malignant tumor of parathyroid gland,True
18239,aggrecan-related bone disorder,True
16972,partial duplication of the long arm of chromosome 22,True
20238,inherited vitreous-retinal disease,True
2009_12050_12100,major depressive disorder,True
1823,sick sinus syndrome,True
5259,Asperger syndrome,True
16965,partial duplication of the long arm of chromosome 15,True
15492_5435,anti-neutrophil antibody associated vasculitis,True
17750,defect in conserved oligomeric Golgi complex,True
20343,alpha-crystallinopathy,True
100311,sensory ataxia,True
21024,"malaria, susceptibility to",True
16201,qualitative or quantitative defects of myotilin,True
100108,TPM3-related myopathy,True
16473,familial rhabdoid tumor,True
16902,partial deletion of the long arm of chromosome 3,True
18262,fetal anticonvulsant syndrome,True
16190,qualitative or quantitative defects of protein ZASP,True
16189,qualitative or quantitative defects of filamin C,True
15700,immunodeficiency due to a late component of complement deficiency,True
18550,spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder,True
16909,partial monosomy of the long arm of chromosome 10,True
17397,constitutional dyserythropoietic anemia,True
16912,partial deletion of the long arm of chromosome 14,True
16958,partial duplication of the long arm of chromosome 7,True
16599,autosomal dominant secondary polycythemia,True
19995,peripheral resistance to thyroid hormones,True
17182,familial hyperinsulinism,True
17352,disorder of glutamine metabolism,True
16377,Pitt-Hopkins-like syndrome,True
17998,PLA2G6-associated neurodegeneration,True
19053,peroxisomal disease,True
3227,prosopagnosia (disease),True
18827,familial chilblain lupus,True
210,thiopurine metabolic disease,True
1902,congenital agammaglobulinemia,True
182,congenital myasthenic syndrome with tubular aggregates,True
33947,hereditary angioedema with normal C1Inh,True
18289,congenital disorder of glycosylation with dilated cardiomyopathy,True
15133,quantitative and/or qualitative congenital phagocyte defect,True
18162,neurometabolic disorder due to serine deficiency,True
16116,generalized bulbospinal muscular atrophy,True
16913,partial deletion of the long arm of chromosome 15,True
18395,male infertility due to sperm motility disorder,True
5445,visceral leishmaniasis,True
17898,autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency,True
20101,constitutional hemolytic anemia due to membrane defect,True
17015,primary interstitial lung disease specific to childhood,True
16954,partial duplication of the long arm of chromosome 3,True
18151,coenzyme Q10 deficiency,True
10293,hypohidrotic ectodermal dysplasia with immunodeficiency,True
21038,Ewing sarcoma/peripheral primitive neuroectodermal tumor,True
100147,SATB2 associated disorder,True
20078,acute myeloid leukemia with recurrent genetic anomaly,True
20587,factor XI deficiency,True
44744,prekallikrein deficiency,True
16900,partial deletion of the long arm of chromosome 1,True
16952,partial duplication of the long arm of chromosome 1,True
16884,partial deletion of the short arm of chromosome 2,True
16542,immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome,True
16888,partial deletion of the short arm of chromosome 6,True
1684,exocrine pancreatic insufficiency,True
45018,creatine biosynthetic process disease,True
15497,hypoglossia/aglossia,True
15922,channelopathy with epilepsy,True
16905,partial deletion of the long arm of chromosome 6,True
1549,hemolytic-uremic syndrome,True
20068,postinfectious encephalitis,True
16536,autosomal recessive lymphoproliferative disease,True
16917,partial deletion of the long arm of chromosome 19,True
5365_20677,hearing loss disorder,True
15789,non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations,True
17684,disorder of beta and omega amino acid metabolism,True
16942,partial trisomy/tetrasomy of the short arm of chromosome 5,True
16150,qualitative or quantitative defects of integrin alpha-7,True
17766,disorder of manganese transport,True
23224,inherited reflex epilepsy,True
13229,hot water reflex epilepsy,True
16915,partial deletion of the long arm of chromosome 17,True
44699,SIN3A-related intellectual disability syndrome,True
100040,FOXG1 disorder,True
17368,systemic disease with skin involvement,True
16903,partial deletion of the long arm of chromosome 4,True
15688,"myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2",True
16967,partial duplication of the long arm of chromosome 17,True
17962,"46,XX disorder of sex development induced by fetoplacental androgens excess",True
19394,Senior-Boichis syndrome,True
44655,c12orf65-related combined oxidative phosphorylation defect,True
13311,ectodermal dysplasia-syndactyly syndrome,True
16897,partial deletion of the short arm of chromosome 19,True
2012,methylmalonic acidemia,True
24307,prothrombin deficiency,True
17385,malignant migrating partial seizures of infancy,True
44209,disorder of lectin complement activation pathway,True
16885,partial deletion of the short arm of chromosome 3,True
18283_18282,qualitative or quantitative defects of alpha-dystroglycan,True
18779,hypercontractile muscle stiffness syndrome,True
7101,familial primary localized cutaneous amyloidosis,True
17754,inborn disorder of porphyrin metabolism,True
42982,GATA2 deficiency with susceptibility to MDS/AML,True
16502,Hermansky-Pudlak syndrome without pulmonary fibrosis,True
19577,anonychia-onychodystrophy syndrome,True
100121,"SCN4A-related myopathy, autosomal recessive",True
19138,bleeding diathesis due to a collagen receptor defect,True
16991,acute necrotizing encephalopathy of childhood,True
18618,"46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect",True
16951,partial trisomy/tetrasomy of the short arm of chromosome 18,True
18446,autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome,True
17709,disorder of lipid absorption and transport,True
13742,familial mesial temporal lobe epilepsy with febrile seizures,True
25513,autoimmune urticaria,True
5049,intracranial hemorrhage,True
20133,posterior fossa malformation,True
17956,mixed autoinflammatory and autoimmune syndrome,True
17897,autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency,True
17899,autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency,True
20075,genetic non-syndromic obesity,True
18319,familial episodic pain syndrome,True
17052,intermediate maple syrup urine disease,True
18869,cobblestone lissencephaly,True
44201,T+ B+ severe combined immunodeficiency,True
45010,glycoprotein metabolism disease,True
17148,heritable pulmonary arterial hypertension,True
20071,infantile epilepsy syndrome,True
18338,activated PI3K-delta syndrome,True
15365,autosomal dominant hereditary sensory and autonomic neuropathy,True
17629,sodium channelopathy-related small fiber neuropathy,True
5804,hyperprolactinemia (disease),True
18318,disorder of asparagine metabolism,True
18337,severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency,True
15149,pure hereditary spastic paraplegia,True
17400,hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome,True
18444,female infertility due to fertilization defect,True
16589,progressive cerebello-cerebral atrophy,True
20506,ovarioleukodystrophy,True
18652,biological anomaly without phenotypic characterization,True
15514,genetic endocrine growth disease,True
16155,qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan,True
18579,disorder of ketone body transport,True
17986,disorder of plasmalogens biosynthesis,True
10033,generalized peeling skin syndrome,True
8429,singleton-Merten dysplasia,True
479,segmental dystonia,True
17020,secondary interstitial lung disease specific to childhood associated with a systemic disease,True
1029,Klippel-Feil syndrome,True
18340,hereditary isolated aplastic anemia,True
16964,partial duplication of the long arm of chromosome 14,True
18186,ring chromosome,True
16908,partial monosomy of the long arm of chromosome 9,True
100337,SEC61A1 deficiency,True
18529,qualitative or quantitative defects of Torsin-1A-interacting protein 1,True
16343,unclassified cardiomyopathy,True
12815,Coats plus syndrome,True
17006,X and Y chromosomal anomaly,True
15031,extraneural perineurioma,True
19404,perineurioma,True
19619,duplication of the esophagus,True
19624_15055_15056,acquired angioedema,True
17643,frontotemporal neurodegeneration with movement disorder,True
24501,appendix neuroendocrine neoplasm,True
15068,"neuroendocrine tumor of rectum, well differentiated, low or intermediate grade",True
3504,anal canal neuroendocrine neoplasm,True
15081,neuroendocrine tumor with other location,True
20064_20110_43187,pulmonary agenesis,True
15823,primary immunodeficiency due to a defect in adaptive immunity,True
19751,autoinflammatory syndrome,True
20049,autosomal anomaly,True
20639,monosomy,False
15137,periodic fever syndrome,True
19042,multiple congenital anomalies/dysmorphic syndrome,True
19457,therapy related acute myeloid leukemia and myelodysplastic syndrome,True
15225,arthrogryposis syndrome,True
44751,chronic diarrheal disease,True
17287,IgG4-related disease,True
3948,cerebral hemangioma,True
20293,ascending aorta anomaly,True
19513,esophageal malformation,True
19998,gastroduodenal malformation,True
19999,intestinal malformation,True
20020,"visceral malformation of the liver, biliary tract, pancreas or spleen",True
20021,diaphragmatic or abdominal wall malformation,True
20022,central nervous system malformation,True
17002,polysomy of X chromosome,True
22606,branchial arch disease,True
20292,congenital anomaly of the great arteries,True
100310,hereditary cerebellar ataxia,True
1705,pure red-cell aplasia,True
2465,bronchiolitis (disease),True
19253,metabolic disease involving other neurotransmitter deficiency,True
16105,acquired skeletal muscle disease,True
24322,disorder of glycosylation,True
15288,herpes simplex virus keratitis,True
17396,toxic dermatosis,True
2565,myelitis,False
15342_19529_21553,transverse myelitis,True
18776,demyelinating hereditary motor and sensory neuropathy,True
18775,axonal hereditary motor and sensory neuropathy,True
2321,sensory peripheral neuropathy,True
15498,oromandibular-limb anomalies syndrome,True
5375,nasopharyngeal neoplasm,True
16733,ganglioglioma,True
16057,isolated encephalocele,True
15482,otomandibular dysplasia,True
15500,facial arteriovenous malformation,True
15478,paramedian facial cleft,True
587,"autoimmune disease of ear, nose and throat",True
20698,inborn error of biotin metabolism,True
21315,malignant tumor of nasopharynx,True
17344,Epstein-Barr virus-associated carcinoma,True
16147,qualitative or quantitative defects of dystrophin,True
20073,adolescent-onset epilepsy syndrome,True
17424,non-syndromic brachydactyly,True
21121,hemangioendothelioma,True
18431,cold-induced sweating syndrome - hyperthermia spectrum,True
3396,epulis,False
15530,trigeminal autonomic cephalalgia,True
15540,hemophagocytic syndrome,True
20334,mast cell leukemia,True
15604,middle ear anomaly,True
15588,limbic encephalitis,True
15589_15594_15590,paraneoplastic limbic encephalitis,True
15591,limbic encephalitis associated with antibodies to cell membrane antigens,True
18391,male infertility with spermatogenesis disorder,True
20061,chromosome Y structural anomaly,True
24361,circadian rhythm sleep disorder,True
15668,hereditary dentin defect,True
19356,urogenital tract malformation,True
20568,cutaneous myiasis,True
1414,osteopoikilosis (disease),True
24482,eccrine sweat gland hamartoma,True
24247,benign eccrine neoplasm,True
18432_19446_19447_19578,lichen myxedematosus,True
18731,lethal multiple congenital anomalies/dysmorphic syndrome,True
15756,myeloid hemopathy,True
17769,acquired immunodeficiency,True
16963,partial duplication of the long arm of chromosome 13,True
16193,qualitative or quantitative defects of alpha-actin,True
16194,qualitative or quantitative defects of nebulin,True
17303,qualitative or quantitative defects of tropomyosin,True
16968,partial trisomy of the long arm of chromosome 18,True
6741,encephalomalacia,True
16969,partial duplication of the long arm of chromosome 19,True
16947,partial duplication of the short arm of chromosome 10,True
7014,vibrio infectious disease,True
16941,partial duplication of the short arm of chromosome 4,True
16943,partial duplication of the short arm of chromosome 6,True
16959,partial duplication of the long arm of chromosome 8,True
17005,Y chromosome number anomaly,True
18762,non-acquired combined pituitary hormone deficiency,True
15127,pituitary deficiency,True
21655,secondary catabolic mucinosis of skin,True
15816,indolent primary cutaneous T-cell lymphoma,True
15817,aggressive primary cutaneous T-cell lymphoma,True
15819,indolent primary cutaneous B-cell lymphoma,True
15758,primary cutaneous T-cell lymphoma,True
15820,primary cutaneous B-cell lymphoma,True
15828,uterovaginal malformation,True
19128,mullerian aplasia,True
15842,bicornuate uterus,True
15834,didelphys uterus,True
15837,Unicervical bicornuate uterus,True
18403_18414,female infertility due to an implantation defect,True
15829,non-syndromic uterovaginal malformation,True
2648,mammary Paget disease,True
17033,primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder,True
20001,respiratory or thoracic malformation,True
20012,systemic or rheumatic disease,True
15494,isolated dystonia,True
6922,Anaplasmataceae infectious disease,True
16678,maternal disease-related embryofetopathy,True
100028,immune epilepsy,True
100022,neonatal/infantile epilepsy syndrome,True
19713,non-syndromic limb reduction defect,True
5527_43512,encephalopathy,True
20065,combined dystonia,True
20147,anophthalmia-microphthalmia syndrome,True
20296,congenital arteriovenous fistula,True
15203_19825_22869,coronary artery congenital malformation,True
16146,caveolinopathy,True
15923,acquired peripheral neuropathy,True
16125,"infectious, fungal or parasitic myopathy",True
16139,qualitative or quantitative protein defects in neuromuscular diseases,True
16140,sarcoglycanopathy,True
17741,disorder of protein O-glycosylation,True
18745,superficial pemphigus,True
19833,pituitary hormone deficiency from tumoral origin,True
16749,tumor of cranial and spinal nerves,True
16178,peripheral neuropathy associated with monoclonal gammopathy,True
16181,solid tumor associated with an acquired peripheral neuropathy,True
16186,qualitative or quantitative defects of myofibrillar proteins,True
5464,rhegmatogenous retinal detachment,True
17255,panuveitis (disease),True
16210,alternating hemiplegia,True
5725,cyclosporiasis,True
16137_16102,acute inflammatory demyelinating polyneuropathy,True
16221,temporomandibular joint anomaly,True
16225,specific learning disability,True
19246,inborn disorder of lysosomal amino acid transport,True
1170,hemiplegia,False
21650,uterine corpus neuroendocrine neoplasm,True
2951,skin adenoid basal cell carcinoma,True
29000,poisoning,False
17019,interstitial lung disease specific to infancy,True
17032,primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder,True
16330,non-familial hypertrophic cardiomyopathy,True
21360,tumor of parathyroid gland,True
20273,disease with potential neoplastic degeneration associated with ocular features,True
21667,neuralgia,False
16435_16434_16436,acquired dermis elastic tissue disorder,True
15219,non-syndromic central nervous system malformation,True
24308,pseudoxanthoma elasticum (inherited or acquired),True
16175,cutis laxa,False
16944,partial duplication of the short arm of chromosome 7,True
16948,partial duplication of the short arm of chromosome 11,True
20056,uniparental disomy of maternal origin,True
5291,brain aneurysm,True
17145,beta-thalassemia and related diseases,True
16488,beta-thalassemia associated with another hemoglobin anomaly,True
16218,Guillain-Barre syndrome,True
16493,variant of Guillain-Barre syndrome,True
16495,functional variant of Guillain-Barre syndrome,True
1422,primary aldosteronism,True
3009,hyperaldosteronism,True
19835_21156,hypophysitis,True
18246,homozygous 2p21 microdeletion syndrome,True
20115_2438_4563,polycythemia,True
16556,transient congenital hypothyroidism due to neonatal factor,True
15330,overgrowth/obesity syndrome,True
17094,cerebral cortical dysplasia,True
17423,split hand or/and split foot malformation,True
20288,atrioventricular valve anomaly,True
16592,non-hereditary degenerative ataxia,True
16593,acquired ataxia,True
16743,tumor of meninges,True
16890,partial deletion of the short arm of chromosome 8,True
16945,partial duplication of the short arm of chromosome 8,True
17955,granulomatous autoinflammatory syndrome,True
18640,secondary vasculitis,True
16667,sickle cell disease associated with an other hemoglobin anomaly,True
2501,brain glioblastoma,True
16680,high grade astrocytic tumor,True
21638,low grade astrocytic tumor,True
21639,grade II glioma,True
16686,diffuse astrocytoma,True
21640,grade III glioma,True
16701_16702,oligoastrocytoma,True
16704,glial tumor of neuroepithelial tissue with unknown origin,True
21193_17046,neuroepithelial neoplasm,True
16721,pineal tumor of neuroepithelial tissue,True
524,mixed extragonadal germ cell cancer,True
16744,primary melanocytic tumor of central nervous system,True
16791,mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies,True
18121,mitochondrial DNA maintenance syndrome,True
16800,mitochondrial membrane transport disorder,True
18791,Moyomoya angiopathy,True
16914,partial deletion of the long arm of chromosome 16,True
16898,partial monosomy of the short arm of chromosome 20,True
16918,partial deletion of the long arm of chromosome 20,True
16938,partial trisomy of chromosome 20,True
16919,partial deletion of the long arm of chromosome 21,True
17011,uniparental disomy of chromosome X,True
20054,partial autosomal monosomy,True
17277,partial deletion of chromosome 12,True
16866,partial deletion of chromosome 1,True
16867,partial deletion of chromosome 2,True
16868,partial deletion of chromosome 3,True
16869,partial deletion of chromosome 4,True
16870,partial deletion of chromosome 5,True
16871,partial deletion of chromosome 6,True
16872,partial deletion of chromosome 7,True
16873,partial deletion of chromosome 8,True
16874,partial deletion of chromosome 9,True
16875,partial deletion of chromosome 10,True
16876,partial deletion of chromosome 11,True
16878,partial deletion of chromosome 16,True
16879,partial deletion of chromosome 17,True
16880,partial deletion of chromosome 18,True
16881,partial deletion of chromosome 19,True
16882,partial deletion of chromosome 20,True
20052,partial autosomal trisomy/tetrasomy,True
42968,partial duplication of chromosome 12,True
16922,partial duplication of chromosome 2,True
16923,partial duplication of chromosome 3,True
16924,partial duplication of chromosome 4,True
16925,partial trisomy/tetrasomy of chromosome 5,True
16927,partial duplication of chromosome 6,True
16928,partial duplication of chromosome 7,True
16929,partial duplication of chromosome 8,True
16930,partial trisomy/tetrasomy of chromosome 9,True
16931,partial duplication of chromosome 10,True
16932,partial duplication of chromosome 11,True
16934,partial duplication of chromosome 16,True
16935,partial duplication of chromosome 17,True
16936,partial trisomy/tetrasomy of chromosome 18,True
16921,partial duplication of chromosome 1,True
16937,partial duplication of chromosome 19,True
20059,gonosome number anomaly,True
20062,chromosome X structural anomaly,True
17003,partial deletion of chromosome X,True
17008,partial duplication of chromosome X,True
17014,interstitial lung disease specific to childhood,True
17026,interstitial lung disease specific to adulthood,True
17040,exposure-related interstitial lung disease,True
3130,mesoblastic nephroma,True
17062,spina bifida aperta,True
20131,malformation of the cerebellar hemispheres,True
4848,ulcerative stomatitis,True
17150,pulmonary arterial hypertension associated with another disease,True
20137,frontotemporal degeneration with dementia,True
17163,hemolytic disease due to fetomaternal alloimmunization,True
18383,osteonecrosis of genetic origin,True
21146,headache disorder,True
1280,choroiditis,True
21073,paraneoplastic syndrome,True
17848,partial deletion of the short arm of chromosome 12,True
17843,congenital pulmonary sequestration,True
17270,autosomal ichthyosis syndrome,True
18134,disorder of melanin metabolism,True
19235,inborn disorder of phenylalanin or tyrosine metabolism,True
17758,disorder of vitamin and non-protein cofactor absorption and transport,True
17322,disorders of vitamin D metabolism,True
16877,partial deletion of the long arm of chromosome 12,True
16962,partial duplication of the long arm of chromosome 11,True
17342,Epstein-Barr virus-related tumor,True
19230,inborn disorder of ornithine or proline metabolism,True
16953,partial duplication of the long arm of chromosome 2,True
17419,non-syndromic amelia,True
17420,intercalary limb defects,True
17422,adactyly of hand,True
15525,congenital pseudoarthrosis of the limbs,True
17430,non-syndromic congenital joint dislocations,True
17431,non-syndromic limb overgrowth,True
17438,amelia of lower limb,True
16032,femoral agenesis/hypoplasia,True
17442,congenital absence of thigh and lower leg with foot present,True
17443,congenital absence of both forearm and hand,True
17444,congenital absence of both lower leg and foot,True
17445,acheiria,False
17446,apodia,False
17447,congenital absence/hypoplasia of thumb,True
17449,split hand (disease),True
17450,split foot (disease),True
17451,non-syndromic brachydactyly of fingers,True
17452,non-syndromic brachydactyly of toes,True
17457,Preaxial polydactyly of toes,True
17470,congenital knee dislocation (disease),True
17474,macrodactyly of fingers,True
17475,macrodactyly of toes,True
919,ampulla of vater cancer,True
18897,primary cutaneous CD30+ T-cell lymphoproliferative disease,True
5665,Bell's palsy,True
6799,hypothalamic neoplasm,True
15654,idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes,True
413,infancy electroclinical syndrome,True
18100,familial primary hypomagnesemia,True
17647,postinfectious autoimmune disease with chorea,True
19254,inborn disorder of purine or pyrimidine metabolism,True
18185,congenital anomaly of the great veins,True
19223,inborn disorder of fatty acid oxidation and ketone body metabolism,True
17719,gangliosidosis,True
42981,aortic valve stenosis,True
24321,disorder of GPI anchor biosynthesis,True
37821,porphyrin metabolism disease,True
24431,bilirubin metabolism disease,True
17757,disorder of metabolite absorption and transport,True
17761,disorder of mineral absorption and transport,True
316,opportunistic bacterial infectious disease,True
17834,secondary hypereosinophilic syndrome,True
20636,mendelian susceptibility to mycobacterial diseases due to a complete deficiency,True
20637,mendelian susceptibility to mycobacterial diseases due to a partial deficiency,True
17913,pure or complex hereditary spastic paraplegia,True
5785,henipavirus infectious disease,True
16338,non-familial dilated cardiomyopathy,True
20039,"46,XX disorder of sex development induced by androgens excess",True
19608,"46,XX disorder of sex development induced by maternal-derived androgen",True
20040,"46,XY disorder of sex development",True
19594,"46,XY disorder of sex development due to a testosterone synthesis defect",True
16348,non-genetic cardiac rhythm disease,True
20575,polymorphic ventricular tachycardia,True
18718,vascular tumor with associated anomalies,True
18872,acute megakaryoblastic leukemia,True
20055,autosomal uniparental disomy,True
19934,polyploidy,False
2241,factor XIII deficiency,True
18390,male infertility due to sperm disorder,True
6591,panniculitis,True
24637,malignant soft tissue neoplasm,True
31012,autoimmune uveitis,True
17765,disorder of magnesium transport,True
17690,disorder of galactose metabolism,True
1068,osteomalacia (disease),True
421,inborn serine deficiency,True
17752,defect in V-ATPase,True
18365,malignant non-epithelial tumor of ovary,True
21657,ovarian sex cord-stromal tumor,True
17592,staphylococcal toxemia,True
15153,autosomal monosomy,True
16970,partial trisomy of the long arm of chromosome 20,True
6061,cervical artery dissection,True
6188,EBV-positive T-cell lymphoproliferative disorder of childhood,True
5594,severe cutaneous adverse reaction,True
15183,short bowel syndrome,True
15158,unexplained periodic fever syndrome,True
5910,phagocyte bactericidal dysfunction,True
2283,neuroaxonal dystrophy,True
18356,secondary neonatal autoimmune disease,True
5007,colon mucinous adenocarcinoma,True
6087,appendix adenocarcinoma,True
6360,penile carcinoma,True
21008,secondary antiphospholipid syndrome,True
3195,peritoneal serous adenocarcinoma,True
6386,primary peritoneal serous adenocarcinoma,True
18389,male infertility due to gonadal dysgenesis or sperm disorder,True
18392,male infertility with spermatogenesis disorder due to single gene mutation,True
44346,echinococcus granulosus infectious disease,True
56803,sulfur metabolism disease,True
2527,keratoacanthoma,True
21027,genetic hair anomaly,True
18918,carcinoma of gallbladder and extrahepatic biliary tract,True
15900,hypoaldosteronism disease,True
18565,congenital urachal anomaly,True
15320,Pierre Robin syndrome associated with a chromosomal anomaly,True
17970,"46,XY disorder of sex development due to impaired androgen production",True
44013,puerperal disorder,True
18659,partial duplication of the short arm of chromosome 19,True
20284,heart position anomaly,True
1117,methemoglobinemia,True
19822,arterial duct anomaly,True
17141,hemorrhagic disorder due to a constitutional thrombocytopenia,True
17710,congenital systemic veins anomaly,True
809,purpura fulminans,True
20182,palpebral tumor with a vascular malformation,True
21605,benign eyelid neoplasm,True
15405_15406_15407,cerebrofacial arteriovenous metameric syndrome,True
16625,acquired deficiency anemia,True
5475,migraine with aura,True
20053,total autosomal monosomy,True
20124,neuromuscular junction disease,True
16197,qualitative or quantitative defects of selenoprotein N1,True
4822,bronchiectasis,True
20266,genodermatosis with ocular features,True
44765,steroid-resistant nephrotic syndrome,True
18170,idiopathic nephrotic syndrome,True
6526,allergic urticaria,True
16586,systemic mastocytosis,True
3079,mastocytoma,True
21179,proteostasis deficiencies,True
5538,proctitis,False
18536,adenocarcinoma of gallbladder and extrahepatic biliary tract,True
20083,immunodeficiency-associated lymphoproliferative disease,True
15711,specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells,True
5923,Pneumocystis infectious disease,True
4802,pulmonary eosinophilia,True
20599,acquired coagulation factor deficiency,True
2304,protein S deficiency,True
17022,secondary interstitial lung disease specific to childhood associated with a systemic vasculitis,True
16127,bacterial myositis,True
1576,telangiectasis,True
18675,IgG4-related ophthalmic disease,True
20640_5134,autoimmune encephalitis,True
19250,inborn disorder of biogenic amine metabolism and transport,True
37807,glycerol metabolism disease,True
37829,purine metabolism disease,True
37937,pyrimidine metabolism disease,True
17731,glycoproteinosis,True
6590,palmoplantar keratosis,True
21028,genetic nail anomaly,True
2282,West Nile fever,True
20648,rubella encephalitis,True
19844,pituitary hormone deficiency secondary to storage disease,True
11849,psoriatic arthritis,True
16179,acquired amyloid peripheral neuropathy,True
16128,parasitic myositis,True
21539,hamartoma of skin appendage,True
20081,macrophage or histiocytic tumor,True
4038,dental enamel hypoplasia,True
20019,digestive tract malformation,True
100192,liver failure,True
5099,subarachnoid hemorrhage (disease),True
15574,chronic cutaneous lupus erythematosus,True
6832,limited scleroderma,True
24574,von Willebrand disease (hereditary or acquired),True
17355,inborn disorder of proline metabolism,True
1770,gastrin secretion abnormality,True
19834,pituitary hormone deficiency from meningeal origin,True
19841,pituitary hormone defiency from vascular origin,True
10481,angioedema,False
20155,eyelid border anomaly,True
6681,Borrelia infectious disease,True
19638,renal dysplasia (disease),True
19401,sporadic idiopathic steroid-resistant nephrotic syndrome,True
19463,non-amyloid monoclonal immunoglobulin deposition disease,True
1198,acquired thrombocytopenia,True
5648,aortic valve insufficiency,True
16582,congenital mitral malformation,True
19818,cleft mitral valve,True
19853,congenital hypothyroidism due to developmental anomaly,True
17012,partial duplication of the short arm of chromosome 1,True
16939,partial duplication of the short arm of chromosome 2,True
16940,partial duplication of the short arm of chromosome 3,True
16955,partial duplication of the long arm of chromosome 4,True
16957,partial duplication of the long arm of chromosome 6,True
16960,partial trisomy of the long arm of chromosome 9,True
16966,partial trisomy of the long arm of chromosome 16,True
17152,pulmonary arterial hypertension associated with congenital heart disease,True
19605_19991,immunotactoid or fibrillary glomerulopathy,True
20050,autosomal trisomy,True
20058,gonosome anomaly,True
20060,gonosome structural anomaly,True
16624,inherited deficiency anemia,True
424,inborn vitamin B12 deficiency (disease),True
21017,synaptopathy,True
20164,epicanthal fold,True
2235,eyelid neoplasm,True
20172,palpebral epidermal tumor,True
21582,lentigo,False
20177,pigmented palpebral tumor,True
20173,benign tumor of palpebral epidermis,True
20193,secretory apparatus of the lacrimal system anomaly,True
20196,anomaly of the secretory and excretory apparatus of the lacrimal system,True
4891,hyperopia,False
1377,vitreous syneresis,True
1146,fourth cranial nerve palsy,True
20278,metabolic disease associated with ocular features,True
19935,isochromosome Y,True
20077_20313,myelodysplastic/myeloproliferative disease,True
20743,mixed phenotype acute leukemia,True
951,thymus lymphoma,True
16188,qualitative or quantitative defects of alphaB-cristallin,True
15485,primary hereditary glaucoma,True
18988,iridocorneal endothelial syndrome,True
20138,ataxia with dementia,True
15239,abnormal origin of the pulmonary artery,True
17727_6729_20394,subaortic stenosis,True
19816,anomaly of the tricuspid subvalvular apparatus,True
5852,mitral valve stenosis,True
15273,complete atrioventricular canal,True
15451,univentricular heart,True
15236,aortic arch defects,True
19826,abnormal origin or aberrant course of coronary artery,True
15450,triatrial heart,True
19837,atrial appendage anomaly,True
19829_19830,congenital anomaly of vena cava,True
19831,congenital anomaly of the coronary sinus,True
17300,congenital pericardium anomaly,True
20517,eosinophilic granuloma,True
18912,Cushing syndrome,True
1667,streptobacillus infectious disease,True
23283,ovarian granulosa cell tumor,True
18172,malignant sex cord stromal tumor of ovary,True
36595,ovarian Sertoli-Leydig cell tumor,True
19092,infantile apnea,True
42489,disease susceptibility,True
20584,anemia due to enzyme disorder,True
3951,scrotal hemangioma,True
2258,pharyngitis,True
20634,grade III meningioma,True
3987,lung lymphoma,True
20650,germ cell tumor of the vulva,True
20657,human papillomavirus-related squamous cell carcinoma,True
4030,ureter transitional cell carcinoma,True
16093,borderline epithelial tumor of ovary,True
37255,ovarian serous tumor,True
4320,adult infiltrating astrocytic neoplasm,True
3389,epithelial-myoepithelial carcinoma,True
461,nutritional biotin deficiency,True
4641,skin carcinoma in situ,True
20760,skin squamous cell carcinoma in situ,True
5693,cauda equina syndrome,True
43327,cerebrospinal fluid leak,True
7379,Meesmann corneal dystrophy,True
2570,high pressure neurological syndrome,True
20799,basal cell neoplasm,True
24988,sex cord-stromal benign neoplasm,True
15448,mitochondrial complex III deficiency,True
21447,benign neoplasm of testis,True
20808,testicular sertoli cell tumor,True
6328,odontogenic cyst,True
5504_1479,diphtheria,False
5838,mansonelliasis,True
20979,pilosebaceous hamartoma,True
6282,lymphangiosarcoma,True
19283,nail anomaly,True
5078,phyllodes tumor,True
44995,parasympathetic nervous system disease,True
21052,parasympathetic paraganglioma,True
6239,head and neck paraganglioma,True
21257,glomus jugulare neoplasm,True
4667,sublingual gland cancer,True
3570,lipid-rich carcinoma,True
2061,intraductal papillary breast neoplasm,True
4210,colonic L-cell glucagon-like peptide producing tumor,True
3064,inverted transitional cell papilloma,True
4990,breast tumor luminal A or B,True
1421,frontal lobe neoplasm,True
4778,epididymo-orchitis,True
21194,disease by subcellular system affected,True
21368,neoplasm of major salivary gland,True
21486,benign neoplasm of ciliary body,True
21524,benign neoplasm of buccal mucosa,True
6286,major salivary gland mucoepidermoid carcinoma,True
3645,cavernous hemangioma of face,True
3518,mediastinum teratoma,True
4473,epiglottis cancer,True
4696,larynx carcinoma in situ,True
21288,carcinoma in situ of hypopharynx,True
372,pharynx carcinoma in situ,True
4663,colon carcinoma in situ,True
21289,carcinoma in situ of cecum,True
3970,gastric fundus carcinoma,True
4716,stomach carcinoma in situ,True
3972,gastric body carcinoma,True
4732,kidney carcinoma in situ,True
44926,oropharyngeal carcinoma,True
374,bile duct carcinoma in situ,True
4727,vestibule of mouth cancer,True
21370,neoplasm of minor salivary gland,True
21383,neoplasm of floor of mouth,True
4700,parotid gland cancer,True
4719,hard palate cancer,True
21320,malignant tumor of floor of mouth,True
4645,cheek mucosa cancer,True
21470,benign neoplasm of pancreas,True
630,immune system organ benign neoplasm,True
3062,intestinal benign neoplasm,True
21461,benign neoplasm of hypopharynx,True
21523,benign neoplasm of pharynx,True
21464,benign neoplasm of cecum,True
21445,benign neoplasm of oral cavity,True
21492,benign neoplasm of major salivary gland,True
21485,benign neoplasm of iris,True
21453,benign neoplasm of retina,True
21487,benign neoplasm of choroid,True
21491,benign neoplasm of gum,True
6327,ocular sebaceous carcinoma,True
3876,eyelid carcinoma,True
20176,palpebral sebaceous gland tumor,True
21632,primary brain neoplasm,True
1221,esophageal varices,True
20776,chlamydiaceae infections,True
24278,proctocolitis,True
5960,silicosis,False
6052,pulmonary tuberculosis,True
21809,primary dysautonomia,True
44872,dysautonomia,True
6625,altitude sickness,True
18687,progressive muscular atrophy,True
6862,myofascial pain syndrome,True
5473,temporomandibular joint disorder,True
20688,spinal cord ischemia,True
4323,muscular atrophy,True
601,autoimmune disease of urogenital tract,True
6736,dysplasia of cervix,True
4844,oral mucosa leukoplakia,True
11375,brittle bone disorder,True
6687,burning mouth syndrome,True
1168,spastic hemiplegia,True
1169,spastic monoplegia,True
20583,chromosome 17 abnormality,True
22825,congenital cystic eye,True
989,mumps infectious disease,True
5576_19606,cryoglobulinemia,True
40870,primary polydipsia,True
1910,ochronosis disorder,True
24250,acute lichenoid pityriasis,True
42974_100197_100203_100204_100205,parainfluenza infectious disease,True
1283,endosalpingiosis,True
1819,multiple cranial nerve palsy,True
16086,osteochondritis of tarsal/metatarsal bone,True
21540,hamartoma of lung,True
6548,facial dermatosis,True
2343,splenic hemangioma,True
37254,transitional cell neoplasm,True
5506,eccrine sweat gland cancer,True
6592,parapsoriasis,True
24249,pityriasis lichenoides,True
1955,protozoal dysentery,True
3756,ovarian mucinous neoplasm,True
17280,demodicidosis,True
6012,viral pneumonia,True
5937,REM sleep behavior disorder,True
5117,Aeromonas hydrophila infectious disease,True
11090,isolated hereditary congenital facial paralysis,True
24469,chondrogenic neoplasm,True
21535,pancreatic neuroendocrine tumor G1,True
6559,hidradenitis suppurativa,True
24572,immunodeficiency-related disorder,True
3525,pancreatic gastrin-producing neuroendocrine tumor,True
20595,disease of retroperitoneum,True
24650,drug-induced osteoporosis,True
2862,bile duct sarcoma,True
2386,mixed epithelial stromal tumor of the kidney,True
3927,posterior uveal melanoma,True
2290,clitoris cancer,True
24881,secondary malignant neoplasm,True
24878,secondary carcinoma,True
24880,metastatic malignant neoplasm,True
24883,metastatic neoplasm,True
5988,toxocariasis,True
18500,cutaneous larva migrans,True
5678,bovine respiratory disease complex,True
24990,swine disease,True
24969,"parasitic disease, non-human animal",True
24945,"hepatitis, non-human animal",True
24919,dog disease,True
5909,pestivirus infectious disease,True
24905,bird disease,True
25013,non-human primate disease,True
5687,Caliciviridae infectious disease,True
24965,"muscular dystrophy, non-human animal",True
24950,horse disease,True
25114,"protozoan infections, animal",True
25113,poultry disease,True
44746,zoonotic bacterial infection,True
24985,sheep disease,True
24912,cat disease,True
25085,"hepatitis, viral, animal",True
25102,monkey disease,True
24981,rodent disease,True
4784,allergic asthma,True
5647,anogenital human papillomavirus infection,True
100134,"mitochondrial complex I deficiency, mitochondrial type",True
45028,radiation or chemically induced disorder,True
20831,congenital vertebral-cardiac-renal anomalies syndrome,True
4356,childhood multilocular cystic kidney neoplasm,True
24676,childhood kidney Wilms tumor,True
5993,Trichomonas vaginitis urogenital infection,True
1618,balanoposthitis,True
16470,Ehlers-Danlos/osteogenesis imperfecta syndrome,True
9726,proteosome-associated autoinflammatory syndrome,True
100328,"microcephaly, epilepsy, and diabetes syndrome",True
33885,"mitochondrial complex IV deficiency, nuclear-type",True
43735,osteoradionecrosis,True
33967,immune dysregulation with inflammatory bowel disease,True
20807,ovarian sertoli-stromal cell tumor,True
36779,axillary neoplasm,True
37256,serous neoplasm,True
3244,central nervous system mesenchymal non-meningothelial tumor,True
3512,mediastinal mesenchymal tumor,True
5688,campylobacteriosis,True
5141,Pseudomonas infection,True
5901,pasteurellosis,True
21677,post-infectious neuralgia,True
1050,malignant otitis externa,True
5386,peripheral arterial disease,True
1114,bacterial myocarditis,True
6821,kidney papillary necrosis,True
1019,suppression amblyopia,True
1116,mesenteric lymphadenitis,True
7024,Yersinia pseudotuberculosis infectious disease,True
19805,twin to twin transfusion syndrome,True
4471,bacterial arthritis,True
23305,heavy metal poisoning,True
497,pyometritis,True
5992,trichinosis,True
5968,sporotrichosis,True
1059,gastric lymphoma,True
42497,mycotoxicosis,True
5940,respirovirus infectious disease,True
23833,multifocal choroiditis,True
22357,congenital acardia,True
1386,visual epilepsy,True
6734,benign duodenal neoplasm,True
4648,vascular dementia,True
24333,sciatica,False
6757,extrahepatic cholestasis,True
5306_20655,ankylosing spondylitis,True
5348,keloid,False
44745,nervous system injury,True
43543,iatrogenic disease,True
45031,infectious diarrheal disease,True
5327,hip fracture,True
5322,ulna fracture,True
755,ectopic pregnancy,True
6604,rosacea,False
5962,skeletal tuberculosis,True
1084,primary optic atrophy,True
6796,hypertensive encephalopathy,True
44067,"candidiasis, invasive",True
3709,agoraphobia,True
21702,alcohol amnestic disorder,True
11385,intervertebral disc degenerative disorder,True
536,pharyngeal squamous cell carcinoma,True
44685,autoimmune/inflammatory optic neuropathy,True
23644,lip and oral cavity carcinoma,True
6182,digestive system mixed adenoneuroendocrine carcinoma,True
17167,malignant epithelial tumor of salivary glands,True
25481,zoonosis,False
1608,vagus nerve neoplasm,True
3532,breast papillary carcinoma,True
3531,papillary eccrine carcinoma,True
44793,spitz nevus,True
44873,childhood myelodysplastic syndrome,True
44880,cystic tumor of the pancreas,True
21513,benign neoplasm of tonsil,True
3822,non-invasive bladder papillary urothelial neoplasm,True
6176,cribriform carcinoma,True
60782,premalignant hematological system disease,True
21196,disease by molecular activity disrupted,True
44981,pseudoallergy,True
45008,cholesterol metabolism disease,True
249,secretory diarrhea,True
45053,osteogenic neoplasm,True
45059,cribriform carcinoma of breast,True
5023,ductal breast carcinoma in situ,True
3175,salivary gland adenoid cystic carcinoma,True
6304,minor salivary gland adenocarcinoma,True
21316,malignant tumor of minor salivary gland,True
56820,nasal cavity and paranasal sinus neoplasm,True
21394,polyp of vagina,True
751,cervical polyp (disease),True
60779,acquired Fanconi syndrome,True
100004,mast cell activation syndrome,True
100012,paratenonitis,True
100053,anaphylaxis,True
100056,exercise-induced anaphylaxis,True
11071,hereditary thrombocytopenia and hematologic cancer predisposition syndrome,True
100318,COVID-19 or sequela,True
6502,acute respiratory distress syndrome,True
100096,COVID-19,False
100320,sequela of COVID-19,True
100210,growth hormone insensitivity syndrome with immune dysregulation,True
100212,IFAP syndrome,True
16148,qualitative or quantitative defects of collagen 6,True
16149,qualitative or quantitative defects of merosin,True
100232,"'psoriatic arthritis, susceptibility to",True
190,ventricular fibrillation (disease),True
3656,hemoglobinuria,True
17743,disorder of O-N-acetylgalactosaminylglycan synthesis,True
432,lymphoplasmacytic lymphoma,True
1577,respiratory syncytial virus infectious disease,True
437,cerebellar ataxia,True
2876,cervical adenosarcoma,True
6732,drug-induced dyskinesia,True
6791,hyperemesis gravidarum (disease),True
5478,torsades de pointes,True
482,focal hand dystonia,True
5984,tinea pedis,True
1209,common wart,True
2954,superficial multifocal basal cell carcinoma,True
5173,actinic keratosis (disease),True
43300,actinic cheilitis,True
6579,melanoacanthoma,True
5326,sunburn,False
1442,dysthymic disorder,True
5754,epilepsy with generalized tonic-clonic seizures,True
1922,pyoureter,False
24612,manic bipolar affective disorder,True
2909,hyperglycemia,True
16384,hypogonadotropic hypogonadism-frontoparietal alopecia syndrome,True
18967,short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia,True
43455,humoral hypercalcemia of malignancy,True
5625,cerebral malaria,True
20512,precursor T-cell acute lymphoblastic leukemia,True
5532,Crohn's colitis,True
5974,strongyloidiasis,True
15057,renin-angiotensin-aldosterone system-blocker-induced angioedema,True
19013,non-histaminic angioedema,True
6835,lipoid nephrosis,True
6684,brain edema,True
8159,postmenopausal osteoporosis,True
6589,occupational dermatitis,True
1265,schizophreniform disorder,True
5487,schizoaffective disorder,True
6760,fetal erythroblastosis,True
4765,intrinsic asthma,True
43233,exfoliative dermatitis,True
5746,enterobiasis,True
42458,Trichinella spiralis infectious disease,True
15808,folliculotropic mycosis fungoides,True
15809,localized pagetoid reticulosis,True
6898,periarthritis,True
6545_44719,erythema multiforme,True
43789,serum sickness,True
5393,gout,False
6004,vasomotor rhinitis,True
4632,obsolete Hodgkin's granuloma,True
4626,Hodgkin's paragranuloma,True
20329,"classic Hodgkin lymphoma, lymphocyte-rich type",True
15274,chronic beryllium disease,True
4638,lymphosarcoma,True
43606,obsolete pathologic fracture,True
17600,hairy cell leukemia variant,True
5354,chronic hepatitis C virus infection,True
5366,chronic hepatitis B virus infection,True
18626,paratyphoid fever,True
2144,obsolete hyperuricemia (disease),True
6727,diastolic heart failure,True
5890,osteitis fibrosa,True
1548,hepatic coma,True
2476,anuria,False
6945,renal artery obstruction,True
6042,meningeal tuberculosis,True
44684,tuberculous meningitis,True
19975,pellagra,False
6676_24182_24183,beriberi,False
5542,acute coronary syndrome,True
20989,hereditary persistence of fetal hemoglobin,True
6312,myofibroma,False
41440,obsolete functional visual loss,True
3792,ovarian carcinosarcoma,True
16249,hereditary site-specific ovarian cancer syndrome,True
17327,primary non-gestational choriocarcinoma of ovary,True
20538,malignant dysgerminomatous germ cell tumor of ovary,True
20541,maligant granulosa cell tumor of ovary,True
20542,malignant Sertoli-Leydig cell tumor of ovary,True
20543,"theca steroid-producing cell malignant tumor of ovary, not further specified",True
6716,coronary thrombosis,True
6652_3678_1090_3672_3673_3676_3677_3679_6803,myocardial infarction,True
41448,metastasis from malignant tumor of colon,True
16684,anaplastic astrocytoma,True
705,Clostridium difficile colitis,True
4639,perinatal necrotizing enterocolitis,True
24330,infectious otitis media,True
6875,ocular hypertension,True
3652,acute urate nephropathy,True
440,metabolic acidosis,True
3040,retrograde amnesia,True
2317,central nervous system origin vertigo,True
24343,pityriasis simplex,True
1966_1817,closed-angle glaucoma,True
18324,adult-onset myasthenia gravis,True
18752,exercise-induced malignant hyperthermia,True
15118,obsolete rare pulmonary disease,True
5263,unipolar depression,True
12048,endogenous depression,True
5351_33926,anorexia nervosa,True
1928,suppurative cholangitis,True
18645,IgG4-related sclerosing cholangitis,True
7015,viral meningitis,True
6913,pneumococcal meningitis,True
40728,Campylobacter fetus infectious disease,True
328,hyperphosphatemia (disease),True
5921,Plasmodium vivax malaria,True
1191_24302_24303,hirudiniasis,True
5920,Plasmodium falciparum malaria,True
5223,acute myeloid leukemia with minimal differentiation,True
5224,acute myeloblastic leukemia without maturation,True
15165,acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor,True
15166,acute myeloid leukemia with t(8;21)(q22;q22) translocation,True
17894,acute myeloid leukemia with CEBPA somatic mutations,True
18256,acute myeloid leukemia with t(8;16)(p11;p13) translocation,True
18433,acute myeloid leukemia with t(6;9)(p23;q34),True
18434,acute myeloid leukemia with t(9;11)(p22;q23),True
18435,acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2),True
18437,acute myeloid leukemia with NPM1 somatic mutations,True
20320,acute myeloblastic leukemia with maturation,True
18193_6448,testicular teratoma,True
20513,spermatocytic seminoma,True
5398,upper aerodigestive tract neoplasm,True
16211,non-papillary transitional cell carcinoma of the bladder,True
18741,paracetamol poisoning,True
2083,Richter syndrome,True
6210_891,fibrolamellar hepatocellular carcinoma,True
18533,undifferentiated carcinoma of liver and intrahepatic biliary tract,True
44903,myelofibrosis,True
5719,Coronavinae infectious disease,True
1656,megaesophagus,True
4568,paralytic ileus (disease),True
6679,bladder neck obstruction,True
1294,Horner syndrome,True
2105,toxic megacolon,True
6896,peptic esophagitis,True
1927,pulmonary valve insufficiency,True
1860,folic acid deficiency anemia,True
6610,skin atrophy,True
6554,granuloma annulare,True
5295,intermittent vascular claudication,True
1761,favism,False
4946,hypoglycemia,True
5649,appendicitis,True
4242,active peptic ulcer disease,True
6314,nasal cavity polyp,True
2268,dyspepsia,False
43731,lytic metastatic bone lesion,True
5769,geniculate herpes zoster,True
1244,vitamin K deficiency hemorrhagic disease,True
5982,tinea infection,True
4745,priapism,False
24306,acquired lactic acidosis,True
467_468_1261_466_20744,atrioventricular block,True
5709,common cold,True
1807,obsolete familial combined hyperlipidemia,True
18184,gastric linitis plastica,True
5190,macroglobulinemia,True
6932,pulmonary edema,True
43975,autonomic dysreflexia,True
5146,post-traumatic stress disorder,True
1247,social phobia,True
6802,inappropriate ADH syndrome,True
2125,status epilepticus,True
1529,pancytopenia,True
43475,Adams-Stokes syndrome,True
18487,autosomal recessive severe congenital neutropenia due to CXCR2 deficiency,True
6730,drug psychosis,True
5942,Reye syndrome,True
2309_2308,papillary conjunctivitis,True
2313,vernal conjunctivitis,True
6642,alcohol withdrawal delirium,True
43726,multiple organ dysfunction syndrome,True
5139,morbid obesity,True
43510_5621,brain injury,True
5546,fibromyalgia,True
4845,aphthous stomatitis,True
6698,cholecystolithiasis,True
6699,choledocholithiasis,True
6874,obstructive jaundice,True
24327,chronic renal failure syndrome,True
4375,end stage renal failure,True
40797,obsolete vascular headache,True
5972,streptococcal pneumonia,True
1382,hepatorenal syndrome,True
6891,partial motor epilepsy,True
1628,tinea unguium,True
5915,pityriasis versicolor,True
1405,dermatophytosis of groin and perianal area,True
20092,rare idiopathic male infertility,True
44211_44212_44213,idiopathic urticaria,True
2048,thrombocytopenia due to immune destruction,True
24677,pancreatic insulinoma,True
4937_6798,hypervitaminosis,True
6659,arteriosclerosis obliterans,True
948,xerophthalmia,True
6981,subacute bacterial endocarditis,True
1687,diabetic cataract,True
6797,hypertensive retinopathy,True
13792,intracerebral hemorrhage,True
4846,placental abruption (disease),True
1197,qualitative platelet defect,True
20755,obsolete heart block,True
6361,penile fibromatosis,True
1725,balanitis xerotica obliterans,True
16566,loiasis,False
4729,dyskinesia of esophagus,True
1270,stone in bladder diverticulum,True
1601,Plasmodium ovale malaria,True
20578,obsolete vitamin D deficiency,True
18378,osteonecrosis of the jaw,True
3127,embryoma,False
6763,frozen shoulder,True
5810,infectious mononucleosis,True
41161_6169_6410_6193,endometrial hyperplasia,True
5886,oral candidiasis,True
7005,ulcerative proctosigmoiditis,True
11401,Alzheimer disease without neurofibrillary tangles,True
5412,duodenal ulcer (disease),True
6021,Prinzmetal angina,True
18694,isolated tracheo-esophageal fistula,True
2443,bruxism (disease),True
1080,acute gonococcal cervicitis,True
5842_2186_1122,maxillary sinusitis,True
6722,dental fluorosis,True
944,cerebral artery occlusion,True
41186,Rowell syndrome,True
2885,erythrasma,False
6865,necrotizing ulcerative gingivitis,True
1266,erysipelas,False
5952,scarlet fever,True
18180,staphylococcal scarlet fever,True
5555,cycloplegia,True
5052,irritable bowel syndrome,True
1315,neurocirculatory asthenia,True
337,exanthema subitum,True
338,variola major infectious disease,True
5717,contagious pustular dermatitis,True
5720,cowpox,False
5850,milker's nodule,True
6544,erythema infectiosum,True
6769,gastroparesis (disease),True
1699,tinea manuum,True
6014,vulvovaginal candidiasis,True
1648,esophageal candidiasis,True
5723,Cryptococcal meningitis,True
44070,candidemia,False
1827,white piedra,True
5669,black piedra,True
42233,disseminated candidiasis,True
5672,blastomycosis,True
6784,hemorrhagic disease of newborn,True
1196,psychologic dyspareunia,True
1780,premature ejaculation (disease),True
4728,diabetic macular edema,True
4901,lingual-facial-buccal dyskinesia,True
1594,Achilles bursitis,True
2209,heel spur,False
40964,obsolete superimposed infection,True
1226,acute contagious conjunctivitis,True
17944,invasive non-typhoidal salmonellosis,True
41095,malignant otitis externa caused by Pseudomonas aeruginosa,True
5945,rhinoscleroma,True
1797,chancroid,False
5834,lymphogranuloma venereum,True
1732,trigonitis,False
20920,escherichia coli infection,True
4215,cutaneous anthrax,True
6731,drug-induced akathisia,True
41879,staphylococcus aureus pneumonia,True
30602,Klebsiella pneumonia,True
5867,Mycoplasma pneumoniae pneumonia,True
5824,Legionnaires' disease,True
43465,achlorhydria,True
6746,endomyocardial fibrosis,True
304,penicilliosis,True
11918,anxiety,False
1613,vertebrobasilar insufficiency,True
41526,pregnancy disorder with abortive outcome,True
41806_5861,multidrug-resistant tuberculosis,True
24305,acquired hyperprolactinemia,True
5654_5655,ascaridiasis,True
2877,cervical carcinosarcoma,True
1932,obsolete atrophic vulva,True
1410,postmenopausal atrophic vaginitis,True
6585,neurodermatitis,True
5700,chickenpox,False
19558_4706,discoid lupus erythematosus,True
25598,pneumonia caused by chlamydia,True
5077,pertussis,False
1979,dumping syndrome,True
21645,esophageal varices with bleeding,True
41167,carcinoid crisis,True
5302,"attention deficit hyperactivity disorder, inattentive type",True
1775,chronic duodenal ileus,True
1103,giardiasis,False
6665,chronic atrophic gastritis,True
1875,epicondylitis,True
18595,single-organ polyarteritis nodosa,True
43079,acute articular rheumatism,True
19735,polymyalgia rheumatica,True
5848,miliary tuberculosis,True
18353,refractory celiac disease,True
6812,intracranial vasospasm,True
1964,chronic tubotympanic suppurative otitis media,True
4264,acute gonococcal endometritis,True
6884,panophthalmitis,True
17988,multifocal atrial tachycardia (disease),True
878,cytomegalovirus retinitis,True
1583,diabetic polyneuropathy,True
1466,punctate epithelial keratoconjunctivitis,True
6876,ocular tuberculosis,True
5883,ophthalmic herpes zoster,True
1438,postinflammatory pulmonary fibrosis,True
41775,intraoperative floppy iris syndrome,True
745,cardiac arrest,True
17863,digitalis poisoning,True
257,acute diarrhea,True
1078,tropical sprue,True
5783,hemopericardium (disease),True
1075,steatorrhea (disease),True
6809,intracranial embolism,True
41008,obsolete contact dermatitis caused by poison oak,True
18754,cyanide poisoning,True
1794,Pthirus pubis infestation,True
3482,Pediculus humanus corporis infestation,True
3471,Pediculus humanus capitis infestation,True
20548,ocular pemphigoid,True
5316,bacterial vaginosis,True
12268,AIDS,False
3632,endocervicitis,True
4808,benign mammary dysplasia,True
6661,ascorbic acid deficiency,True
5692,cat-scratch disease,True
19359,Rocky mountain spotted fever,True
5888,ornithosis,False
1249,trachoma,False
21158_1125,gonococcal epididymo-orchitis,True
19360,rickettsialpox,True
233,Japanese spotted fever,True
20395,valvar pulmonary stenosis,True
4571,intestinal impaction,True
22430,persistent fetal circulation syndrome,True
1239,anemia of prematurity,True
1356,iron deficiency anemia,True
6521,acneiform dermatitis,True
1033,mycotic corneal ulcer,True
1555,neonatal thyrotoxicosis,True
18368,primary peritoneal serous/papillary carcinoma,True
16430,Balo concentric sclerosis,True
5758,eunuchism,False
1119,premature menopause,True
6823,Klinefelter syndrome,True
19198,sympathetic ophthalmia,True
40698,subacute bursitis,True
15911,obsolete rare acquired hemolytic anemia,True
1971,farmer's lung disease,True
6996,thyroid crisis (disease),True
19726_19727,type II mixed cryoglobulinemia,True
1072,mild pre-eclampsia,True
5983,tinea favosa,True
15446,atypical coarctation of aorta,True
20386,double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis,True
5753_41366,epiglottitis,True
4964,"peripheral T-cell lymphoma, not otherwise specified",True
19476,primary cutaneous peripheral T-cell lymphoma not otherwise specified,True
15810,primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma,True
15811,primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma,True
15812,primary cutaneous gamma/delta-positive T-cell lymphoma,True
6836,Listeria meningitis,True
5894,paracoccidioidomycosis,True
6753,Escherichia coli meningitis,True
24412,Peptostreptococcus infectious disease,True
42370,Yersinia enterocolitica infectious disease,True
24376,"sleep disorder, initiating and maintaining sleep",True
4941,eosinophilia-myalgia syndrome,True
1632,intracranial arteriosclerosis,True
1012,obsolete breast fibroadenosis,True
42451,endomyometritis,True
43519,burn,False
25419,furunculosis,True
330,endemic typhus,True
19504,superior limbic keratoconjunctivitis,True
1717_1488,corneal pigmentation,True
4794,exposure keratitis,True
5680,Brill-Zinsser disease,True
20571,relapsing epidemic typhus,True
6244,HER2 positive breast carcinoma,True
7027,non-alcoholic steatohepatitis,True
6522,acquired keratosis,True
1795,plantar wart,True
6742,endemic goiter,True
6986,substernal goiter,True
4668,fascioliasis,True
1298,congenital mitral valve insufficiency,True
5253,high output heart failure,True
18673,IgG4-related pachymeningitis,True
958,neuroretinitis,True
703,collagenous colitis,True
7016,vitamin A deficiency (disease),True
16682,giant cell glioblastoma,True
16687,protoplasmic astrocytoma,True
16688,fibrillary astrocytoma,True
16689,gemistocytic astrocytoma,True
16690,pleomorphic xanthoastrocytoma,True
16692,pilomyxoid astrocytoma,True
16696,anaplastic oligodendroglioma,True
16703,anaplastic oligoastrocytoma,True
16705,angiocentric glioma,True
16706,chordoid glioma of the third ventricle,True
16707,astroblastoma,True
6383,"primary cutaneous diffuse large B-cell lymphoma, Leg type",True
17346,Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly,True
17347,plasmablastic lymphoma,True
17596,diffuse large B-cell lymphoma of the central nervous system,True
17597,T-cell/histiocyte rich large B cell lymphoma,True
18225,ALK-positive large B-cell lymphoma,True
20323,primary mediastinal large B-cell lymphoma,True
20324,intravascular large B-cell lymphoma,True
6946,renal osteodystrophy,True
18468,proton-pump inhibitor-responsive esophageal eosinophilia,True
4573,ariboflavinosis,True
494,renal fibrosis,True
43653,herpes labialis,True
5406,gestational diabetes,True
5314,relapsing-remitting multiple sclerosis,True
4574,pyridoxine deficiency anemia,True
1505,alcoholic hepatitis,True
4854,ophthalmia neonatorum,True
1076,glucose intolerance,True
6920,prediabetes syndrome,True
18613,AH amyloidosis,True
16600,acute neonatal citrullinemia type I,True
16601,adult-onset citrullinemia type I,True
20544,streptococcal toxic-shock syndrome,True
5714_5821_333,congenital syphilis,True
927,asymptomatic neurosyphilis,True
5977,tabes dorsalis,True
40925,latent yaws,True
237,erysipeloid,True
5822_40923_40922,latent syphilis,True
979,pinta disease,True
1714,bejel,False
5699,cervicofacial actinomycosis,True
744,lung abscess (disease),True
42452,tertiary lesion of yaws,True
42972,meningococcemia,True
5582,binge eating disorder,True
1521,intermittent explosive disorder,True
41052,postherpetic neuralgia,True
19441,ATTRV122I amyloidosis,True
5770,genital herpes,True
2411,narcissistic personality disorder,True
1896,obstructive hydrocephalus,True
20803,obsolete bundle branch block,True
6598,phototoxic dermatitis,True
19734,juvenile polymyositis,True
5859,mucocutaneous leishmaniasis,True
1951,Norwegian scabies,True
1874,toxic labyrinthitis,True
495,oppositional defiant disorder (disease),True
41086,mixed anxiety and depressive disorder,True
6711,constrictive pericarditis (disease),True
41114,peripheral ischemia,True
18615,hemicrania continua,True
2330,alcoholic psychosis,True
41284,primary motor cortex epilepsy,True
5566,neonatal abstinence syndrome,True
6624,overactive bladder (disease),True
1445,obsolete neurogenic bladder (disease),True
6583,necrobiosis lipoidica,True
991,obsolete left bundle branch block,True
17216,calciphylaxis cutis,True
17217,visceral calciphylaxis,True
6582,mongolian spot,True
23297,guttate psoriasis,True
22205,pustular psoriasis,True
44033,posterior leukoencephalopathy syndrome,True
1803,myringitis bullosa hemorrhagica,True
5884,opisthorchiasis,True
6663,asphyxia neonatorum,True
1297,cardiac tamponade,True
6723,denture stomatitis,True
5929,postpartum depression,True
1306,recurrent corneal erosion,True
20545,staphylococcal toxic-shock syndrome,True
8575,nicotine dependence,True
16220,congenital temporomandibular joint ankylosis,True
1943,Plasmodium malariae malaria,True
41182,polymorphic light eruption,True
41755,twin reversal arterial perfusion syndrome,True
4717,peliosis hepatis,True
15523,epithelioid hemangioendothelioma,True
16222,spindle cell hemangioma,True
16236,kaposiform hemangioendothelioma,True
18712,composite hemangioendothelioma,True
18713,retiform hemangioendothelioma,True
18714,primary intralymphatic angioendothelioma,True
6375,placental hemangioma,True
5531,morphine dependence,True
16266,squamous cell carcinoma of the corpus uteri,True
16267,undifferentiated carcinoma of the corpus uteri,True
43267,rheumatoid vasculitis,True
6015,Waterhouse-Friderichsen syndrome,True
939,intracranial abscess,True
21948,cutaneous tuberculosis,True
41959,fibrosis of bile duct,True
6786,hepatic vein thrombosis,True
19474,hepatosplenic T-cell lymphoma,True
15573,subacute cutaneous lupus erythematosus,True
24340,retinal neuroblastoma,True
5722,croup,False
13855,"influenza, severe, susceptibility to",True
100135,Dravet syndrome,True
17791,high bone mass osteogenesis imperfecta,True
5662,balantidiasis,True
20519,hand-Schuller-Christian disease,True
6605,scalp dermatosis,True
6115,"blast phase chronic myelogenous leukemia, BCR-ABL1 positive",True
24248,obsolete pityriasis,True
41447,metastatic malignant neoplasm in the colon,True
6540,dyshidrosis,True
1290,allergic cutaneous vasculitis,True
43176,phosphoribosylpyrophosphate synthetase deficiency,True
5996,trichuriasis,True
5776,gnathomiasis,True
1532,capillariasis,True
1612,carotid stenosis,True
6690,carotid artery thrombosis,True
11910,obsolete autosomal dominant limb-girdle muscular dystrophy type 1C,True
16097,symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers,True
18098,autosomal dominant limb-girdle muscular dystrophy type 1E (DES),True
43797,spinal cord injury,True
20321,acute undifferentiated leukemia,True
20322,acute biphenotypic leukemia,True
18136,minimal pigment oculocutaneous albinism type 1,True
18137,temperature-sensitive oculocutaneous albinism type 1,True
4279,glossopharyngeal motor neuropathy,True
41295,acute papillary necrosis,True
409,chorioamnionitis,True
701,ischemic colitis,True
5320,tibia fracture,True
242,tinea barbae,True
2967,dermatophytosis of scalp or beard,True
6649_498_499,anterior ischemic optic neuropathy,True
1164,antisocial personality disorder,True
19467,CD4+/CD56+ hematodermic neoplasm,True
6120,C-cell hyperplasia,True
6978,splenic infarction,True
6795,hypersplenism (disease),True
41751,multibacillary leprosy,True
1484,paranoid schizophrenia,True
5906,peritonsillar abscess,True
1821,hypoactive sexual desire disorder,True
5757,eumycotic mycetoma,True
22993,dipsogenic diabetes insipidus,True
40871_40872,polydipsia,False
22007,water intoxication,True
5645,ancylostomiasis,True
5995,trichostrongylosis,True
16681,gliosarcoma,True
15687,chronic eosinophilic leukemia,True
6147,"chronic eosinophilic leukemia, not otherwise specified",True
1024,pneumonic plague,True
5956,septicemic plague,True
18857,creeping myiasis,True
297,baylisascariasis,True
5260,autism (disease),True
41259,diphtheritic myocarditis,True
41996,thallium poisoning,True
42484,disseminated sporotrichosis,True
42433,mycotic endocarditis,True
1954,thrombophlebitis migrans,True
4712,herpes simplex dermatitis,True
43106,ichthyosis linearis circumflexa,True
41752,paucibacillary leprosy,True
20316,acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22),True
6805,intermediate coronary syndrome,True
20806,sinoatrial block,True
5670,blackwater fever,True
1404,ecthyma,False
6658,arteriolosclerosis,True
44917,T-lymphoblastic lymphoma,True
15560,obsolete classic mast cell leukemia,True
15561,aleukemic mast cell leukemia,True
19946,ligneous conjunctivitis,True
23597,laryngeal papillomatosis,True
4160,female stress incontinence,True
41656,ST-elevation myocardial infarction,True
19088,post-transplant lymphoproliferative disease,True
2399,"tenosynovial giant cell tumor, localized type",True
1186,depersonalization disorder,True
746,obsolete inguinal hernia,True
2698,testicular gonadoblastoma (disease),True
19007,vaginal atresia,True
748,mastoiditis (disease),True
7778,obsolete hypertelorism (disease),True
8677,widow's peak (disease),True
1210,enophthalmos (disease),True
20201,obsolete conjunctival telangiectasia (disease),True
20356,coloboma of iris (disease),True
2053,obsolete hypoglycemic coma,True
747,obsolete umbilical hernia,True
4585,polyhydramnios (disease),True
20439,patent foramen ovale (disease),True
2905,mutism (disease),True
1552,dyscalculia (disease),True
21643,mesenteric varices,True
1911,tracheal calcification,True
5541,spondylolysis (disease),True
63,obsolete molybdenum cofactor deficiency (disease),True
20419,pulmonary artery hypoplasia (disease),True
6498,adenomatous colon polyp,True
6345,palmar fibromatosis,True
3362,cutaneous leiomyosarcoma (disease),True
17106,retrocerebellar cyst (disease),True
1065,supine hypotensive syndrome,True
6354,parathyroid hyperplasia (disease),True
6637,acute kidney tubular necrosis,True
6726,diaphragmatic eventration (disease),True
6123,cardiac rhabdomyoma (disease),True
3304,plexiform neurofibroma (disease),True
17437_17478_17479_17480_17481,amelia of upper limb,True
5997,tricuspid valve stenosis,True
18551,patent urachus (disease),True
671,finger agnosia (disease),True
3038,dysgraphia (disease),True
680,astereognosia (disease),True
2904,echolalia (disease),True
1617,transient global amnesia (disease),True
19665,monostotic fibrous dysplasia (disease),True
2660,blepharochalasis (disease),True
19808,aortic valve atresia (disease),True
15249,mitral atresia disorder,True
20429,cor triatriatum dexter (disease),True
20398,congenital mitral stenosis (disease),True
18090,double outlet left ventricle (disease),True
19807,mesocardia (disease),True
21902,aortopulmonary window,True
1662,obsolete right bundle branch block (disease),True
18936,osteoblastoma (disease),True
15265,bronchiolitis obliterans with obstructive pulmonary disease,True
18815_11645,aneurysmal bone cyst,True
12494,testicular microlithiasis (disease),True
1882,bacteriuria (disease),True
18844,urachal cyst (disease),True
1478,anisometropia (disease),True
4697,esophageal leukoplakia (disease),True
6251,inclusion body fibromatosis (disease),True
1447,detrusor sphincter dyssynergia (disease),True
1603,paralytic lagophthalmos (disease),True
1623,cicatricial lagophthalmos (disease),True
6190,endolymphatic sac tumor (disease),True
541,jejunal adenocarcinoma (disease),True
2205,vulvar melanoma (disease),True
4997,chondroblastoma (disease),True
15386,epignathus (disease),True
6714,coronary aneurysm,True
20773,cerebrospinal fluid rhinorrhea,True
21718,polyneuritis,True
24246,syringofibroadenoma,True
3367,gastric leiomyosarcoma (disease),True
1143,paralytic strabismus,True
3805,malignant pericardial mesothelioma,True
21642,vulval varices,True
16523,bronchogenic cyst (disease),True
6947,renovascular hypertension (disease),True
13538,alpha-2-macroglobulin deficiency,True
6995,tethered spinal cord syndrome,True
17086,primary tethered cord syndrome,True
17060,open iniencephaly,True
17061,closed iniencephaly,True
24377,"circadian rhythm sleep disorder, delayed sleep phase type",True
24378,"circadian rhythm sleep disorder, advanced sleep phase type",True
6402,salivary gland basal cell adenocarcinoma,True
3197,granular cell carcinoma,True
17461,familial isolated clinodactyly of fingers,True
3969,amphetamine abuse,True
3012,sarcomatoid renal cell carcinoma,True
5220,collecting duct carcinoma,True
20342,congenital myopathy with excess of thin filaments,True
6044,nephrosclerosis,True
16359,limited systemic sclerosis,True
5396,thoracic aortic aneurysm,True
24559,AAT1,False
6337,ovarian endometriosis,True
15294,nephrogenic systemic fibrosis,True
18021,hypotrichosis-deafness syndrome,True
25483,"mammary neoplasms, animal",True
13300,commissural facial cleft,True
3964_21929,myositis ossificans,True
16693,subependymal giant cell astrocytoma,True
15522,situs ambiguus,True
13213,"hearing loss, cisplatin-induced, susceptibility to",True
960,diabetic peripheral angiopathy,True
1446,low compliance bladder,True
6857,middle cerebral artery infarction,True
2444,melancholia,True
5203,ischemia reperfusion injury,True
24614,neurotic depression,True
18198,acute encephalopathy with biphasic seizures and late reduced diffusion,True
20689,AIDS dementia complex,True
1540,bagassosis,False
17699,"glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form",True
6643,alcoholic cardiomyopathy,True
1569,acoustic neuroma,True
1625,corpus luteum cyst,True
5051,invasive lobular breast carcinoma,True
20635,anaplastic meningioma,True
4330,leptomeningeal sarcoma,True
3054,benign meningioma,True
4145,meningothelial meningioma,True
4144,fibrous meningioma,True
4143,psammomatous meningioma,True
3918,angiomatous meningioma,True
4146,transitional meningioma,True
1275,spinal meningioma,True
4544,chordoid meningioma,True
20540,ovarian gynandroblastoma,True
15871,benign breast phyllodes tumor,True
4022,parasagittal meningioma,True
2888,intraorbital meningioma,True
4446,olfactory groove meningioma,True
3055,secretory meningioma,True
3056,lymphoplasmacyte-rich meningioma,True
3058,microcystic meningioma,True
19668,adenoma of pancreas,True
6060,nasopharyngeal squamous cell carcinoma,True
5376_13860,membranous glomerulonephritis,True
4369,renal infectious disease,True
19736,dense deposit disease,True
14448,"hyperthyroxinemia, familial dysalbuminemic",True
18247,CADDS,False
6933,pulmonary plasma cell granuloma,True
6804,inflammatory breast carcinoma,True
17602,ALK-positive anaplastic large cell lymphoma,True
3435,microcystic adenoma,True
16607,odontohypophosphatasia,True
16605,perinatal lethal hypophosphatasia,True
20734,erythrocyte AMP deaminase deficiency,True
395,alcohol-related birth defect,True
393,partial fetal alcohol syndrome,True
2796,melanotic medulloblastoma,True
6300,medullomyoblastoma with myogenic differentiation,True
16711_5547,desmoplastic medulloblastoma,True
18004,acute megakaryoblastic leukemia without down syndrome,True
18436,megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13),True
20526,acute megakaryoblastic leukemia in down syndrome,True
19471,adult T-cell leukemia/lymphoma,True
16588,infantile mercury poisoning,True
15597,pustulosis palmaris et plantaris,True
5189,internal carotid artery stenosis,True
1185,dissociative amnesia,True
2450,prostatic adenoma,True
994,malignant prostate phyllodes tumor,True
11278,bile duct cysts,True
18805,choledochal cyst,True
5628,male breast carcinoma,True
16442,elastoma,False
6688,byssinosis,False
4977,angioimmunoblastic T-cell lymphoma,True
20473,dappled diaphyseal dysplasia,True
11238,"chondrodysplasia punctata, brachytelephalangic, autosomal",True
4703,bladder carcinoma in situ,True
19468,T-cell prolymphocytic leukemia,True
25420,"gastroenteritis, transmissible, of swine",True
17892,autosomal recessive myogenic arthrogryposis multiplex congenita,True
6654,anthracosis,True
6653,anthracosilicosis,True
6844,magnesium deficiency,True
4876,myocardial stunning,True
16254,rare variants of adenocarcinoma of the corpus uteri,True
16258,uterine corpus carcinofibroma,True
16263,primitive neuroectodermal tumor of the corpus uteri,True
16268,papillary carcinoma of the corpus uteri,True
16269,high-grade neuroendocrine carcinoma of the corpus uteri,True
16270,low-grade neuroendocrine tumor of the corpus uteri,True
16271,adenoid cystic carcinoma of the corpus uteri,True
16272,transitional cell carcinoma of the corpus uteri,True
3315,endometrium carcinoma in situ,True
13296,myeloid neoplasm associated with FGFR1 rearrangement,True
15689,myeloid neoplasm associated with PDGFRA rearrangement,True
15690,myeloid neoplasm associated with PDGFRB rearrangement,True
19451,chronic neutrophilic leukemia,True
19776,Juberg-Marsidi syndrome,True
19778,Smith-Fineman-Myers syndrome,True
2548,cellular schwannoma,True
2559,plexiform schwannoma,True
17054,thiamine-responsive maple syrup urine disease,True
24358,complex sleep apnea,True
20761,Bowen disease of the skin,True
4671,penis carcinoma in situ,True
4267,squamous papillomatosis,True
6644,alcoholic liver cirrhosis,True
5813,interdigitating dendritic cell sarcoma,True
18537,squamous cell carcinoma of gallbladder and extrahepatic biliary tract,True
1828,acquired color blindness,True
6710,complex partial epilepsy,True
21367,"leukemia, myeloid, accelerated-phase",True
15479,submucosal cleft palate,True
15468,craniosynostosis-cataract syndrome,True
16363,obsolete rare hereditary hemochromatosis,True
19636,"renal agenesis, unilateral",True
6068,ACTH-producing pituitary gland adenoma,True
6634,pituitary gland acidophil adenoma,True
1324,hyperandrogenism,True
17149,drug- or toxin-induced pulmonary arterial hypertension,True
4438,sporadic breast cancer,True
4026,skin tag,False
6717,cutaneous fibrous histiocytoma,True
20980,hair nevus,False
2788,papillary craniopharyngioma,True
2787,adamantinous craniopharyngioma,True
2510,obsolete germ cell and embryonal cancer,True
18080,obsolete rare germ cell tumor,True
100193,chronic liver failure,True
5556,lupus nephritis,True
25449,paratuberculosis,True
6838,lupus vulgaris,True
18011_16099,overlap myositis,True
6785,Henoch-Schoenlein purpura,True
16164,herpetiform pemphigus,True
6928,proliferative vitreoretinopathy,True
1225,opioid abuse,True
20359,congenital symblepharon,True
21171,Timothy syndrome type 1 (disorder),True
15346,Jeavons syndrome,True
19197,folinic acid-responsive seizures,True
5912,phencyclidine abuse,True
24335_1895,retrobulbar neuritis,True
4743,hyperhomocysteinemia,True
11293,Homocysteinemia,True
1299,diabetic autonomic neuropathy,True
16983,Bartter syndrome with hypocalcemia,True
17308,obsolete Marfan syndrome type 2,True
5827,lipoatrophic diabetes,True
19563,CREST syndrome,True
5019,diffuse scleroderma,True
2253,spondylosis,True
1987,senile degeneration of brain,True
4633,"Hodgkin's lymphoma, mixed cellularity",True
20328,"classic Hodgkin lymphoma, mixed cellularity type",True
4620,"Hodgkin's lymphoma, lymphocytic depletion",True
20330,"classic Hodgkin lymphoma, lymphocyte-depleted type",True
4604,"Hodgkin's lymphoma, lymphocytic-histiocytic predominance",True
20815,dentigerous cyst,True
1935,neurogenic arthropathy,True
22742,occupational asthma,True
20563,Dedifferentiated liposarcoma,True
3595,sclerosing liposarcoma,True
6096,atypical endometrial hyperplasia,True
6491,vulvar lichen sclerosus,True
15032,intraneural perineurioma,True
4996,childhood acute myeloid leukemia,True
12296,lipomyelomeningocele,True
17077,myelocystocele,True
1752,alveolar periostitis,True
18989,recurrent acute pancreatitis,True
550,extra-adrenal sympathetic paraganglioma,True
10045,obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome,True
43207,urethral obstruction sequence,True
44278,obsolete short sleeper,True
70_11940_10282_11941_12606_13045,"mycobacterium tuberculosis, susceptibility to",True
10295,anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome,True
16469,"Ehlers-Danlos syndrome, vascular-like type",True
19348,obsolete Ehlers-Danlos syndrome with periventricular heterotopia,True
16202,autosomal dominant rhegmatogenous retinal detachment,True
15567,cataract-glaucoma syndrome,True
20368,Axenfeld anomaly,True
18829,familial schizencephaly,True
11947,HNP1,False
19521,centripetalis recessive dystrophic epidermolysis bullosa,True
20369,Chandler syndrome,True
44339,lumbar disc degenerative disorder,True
5534,ileocolitis,True
43294,linear scleroderma,True
20312,atypical chronic myeloid leukemia,True
4653,"atypical chronic myeloid leukemia, BCR-ABL1 negative",True
6666,atrophy of thyroid,True
15571,deletion 5q35,True
22762,chromosome 4 short arm deletion,True
18023,hemoglobin M disease,True
21812,adnexal spiradenoma/cylindroma of a sweat gland,True
6788,hydrophthalmos,True
4708,esophagus carcinoma in situ,True
5355,coronary restenosis,True
65_12963_12962_12966_12969_12970_11386_12971,"microvascular complications of diabetes, susceptibility to",True
2768,true hermaphroditism,True
501,obsolete Jensen syndrome,True
17511,"split hand, unilateral",True
17512,"split hand, bilateral",True
1520,kleptomania,True
11662,pathological gambling,True
2419,transient tic disorder,True
3542,dental pulp calcification,True
17110_17111,isolated Dandy-Walker malformation,True
17117,congenital non-communicating hydrocephalus,True
20351,Blake pouch cyst,True
18980,"acrofacial dysostosis, Kennedy-Teebi type",True
18535,biliary cystadenocarcinoma,True
60778,adult Fanconi syndrome,True
17631,obsolete rare tumor of gallbladder and extrahepatic biliary tract,True
44781,nephrotic syndrome of childhood - steroid sensitive,True
6477,undifferentiated ovarian carcinoma,True
3470,cellular ependymoma,True
3474,tanycytic ependymoma,True
3475,papillary ependymoma,True
3476,clear cell ependymoma,True
2336,inflammatory and toxic neuropathy,True
1957,critical illness polyneuropathy,True
18270,extraskeletal Ewing sarcoma,True
17043_4454_4455,congenital mesoblastic nephroma,True
3144,medulloepithelioma,True
4209,cerebral primitive neuroectodermal tumor,True
20679,conductive hearing loss disorder,True
2687,superior mesenteric artery syndrome,True
2695,sagittal sinus thrombosis,True
11615,East Texas bleeding disorder,True
16320,obsolete rare hereditary thrombophilia,True
43549,crush syndrome,True
43985,central nervous system lupus,True
18649,cerebral visual impairment,True
20494,oculootodental syndrome,True
18472,familial isolated trichomegaly,True
4922,developmental coordination disorder,True
18492,hereditary clear cell renal cell carcinoma,True
15554,typical urticaria pigmentosa,True
15555,plaque-form urticaria pigmentosa,True
15556,nodular urticaria pigmentosa,True
19576,telangiectasia macularis eruptiva perstans,True
11596_11597_11598_11608_11609_13107_13294_13295,atopic dermatitis,True
2489,malignant breast phyllodes tumor,True
6827,lateral medullary syndrome,True
19202,myxofibrosarcoma,True
18485,"glycogen storage disease due to acid maltase deficiency, late-onset",True
100251,familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome,True
19458,acute basophilic leukemia,True
11649,AVSD 1,False
20406,complete atrioventricular canal-left heart obstruction syndrome,True
20407,complete atrioventricular canal-ventricle hypoplasia syndrome,True
20408,complete atrioventricular canal-tetralogy of fallot syndrome,True
17697,"glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form",True
17698,"glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form",True
17700,"glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form",True
9010,aortic arch interruption,True
18498,double outlet right ventricle with subaortic or doubly committed ventricular septal defect,True
20387,double outlet right ventricle with subpulmonary ventricular septal defect,True
20388,double outlet right ventricle with non-committed subpulmonary ventricular septal defect,True
22417,alopecia congenita keratosis palmoplantaris,True
21979,Basaran Yilmaz syndrome,True
15635,porokeratotic eccrine ostial and dermal duct nevus,True
17523,"polydactyly of a biphalangeal thumb, unilateral",True
19325,phakomatosis cesioflammea,True
19326,phakomatosis cesiomarmorata,True
3653,stork bite,False
8274,polyostotic fibrous dysplasia,True
6773,gonadal tissue neoplasm,True
16577,biliary atresia with splenic malformation syndrome,True
43523,cadmium poisoning,True
18447,chondromyxoid fibroma,True
16573,acute fatty liver of pregnancy,True
16242,hemoglobin C disease,True
16243,hemoglobin E disease,True
19537,hemoglobin D disease,True
6855,mesenteric vascular occlusion,True
17726_17724_17725,"Tay-Sachs disease, b variant",True
17728,"Tay-Sachs disease, B1 variant",True
16061,immunodeficiency with factor H anomaly,True
6685,brain hypoxia - ischemia,True
17151,pulmonary arterial hypertension associated with connective tissue disease,True
15592,limbic encephalitis with LGI1 antibodies,True
16776,frontal fibrosing alopecia,True
6831,leukostasis,True
19075,Bosley-Salih-Alorainy syndrome,True
5293,flatfoot,False
13564,anhaptoglobinemia,True
19311,woolly hair nevus,True
19318,inflammatory linear verrucous epidermal nevus,True
23235,giant congenital nevus,True
17317,phakomatosis pigmentokeratotica,True
1833,lacrimal duct obstruction,True
15985,"bone dysplasia, Azouz type",True
3088,intramuscular hemangioma,True
13941,metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria,True
4058,pancreatic cholera,True
1830,somatization disorder,True
2971_5208,amelanotic skin melanoma,True
20530,mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency,True
23483,infectious myositis,True
16126,viral myositis,True
16130,fungal myositis,True
1901,selective IgG subclass deficiency,True
20710,amnionitis,False
5797,HIV wasting syndrome,True
410,funisitis,False
25136,"tuberculosis, bovine",True
21427,squamous cell carcinoma of lip,True
44638,hypopharynx squamous cell carcinoma,True
13461,inosine triphosphatase deficiency,True
4803,disseminated eosinophilic collagen disease,True
19472,extranodal nasal NK/T cell lymphoma,True
4612,malignant histiocytosis,True
24251,Minamata disease,True
13098,noise induced hearing loss,True
18343,periodic paralysis with later-onset distal motor neuropathy,True
18344,periodic paralysis with transient compartment-like syndrome,True
44273,"obsolete hypertension, diastolic, resistance to",True
17940_18567_44625,autosomal dominant Charcot-Marie-Tooth disease type 2,True
16985,nevus of Ito,True
6562,obsolete incontinentia pigmenti achromians,True
9361,autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius,True
18663,regressive spondylometaphyseal dysplasia,True
1332,palindromic rheumatism,True
6041,lung carcinoid tumor,True
3789,hereditary papillary renal cell carcinoma,True
248,dengue shock syndrome,True
18448,clear cell papillary renal cell carcinoma,True
10781,"ataxia and polyneuropathy, adult-onset",True
27069,"mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1",True
10777,"cardiomyopathy, infantile hypertrophic",True
17066,cervical spina bifida aperta,True
44875,coronary microvascular disease,True
22394_42491,cervical intraepithelial neoplasia,True
10783,"Alzheimer disease, susceptibility to, mitochondrial",True
27068,"mitochondrial complex 1 deficiency, mitochondrial type 1",True
21915,arakawa syndrome 2,True
23246,linear porokeratosis,True
18160,hereditary retinoblastoma,True
20404,shone complex,True
13568,"sick sinus syndrome 3, susceptibility to",True
4831,proliferative fasciitis,True
15398,hemifacial microsomia,True
4545,adult malignant schwannoma,True
2675,neurofibrosarcoma,True
4540,epithelioid malignant peripheral nerve sheath tumor,True
8412,intestinal schistosomiasis,True
44345,Schistosoma mansoni infectious disease,True
5196,obsolete teratozoospermia,True
20326,lymphomatoid papulosis,True
17598,primary cutaneous anaplastic large cell lymphoma,True
19980,"renal hypoplasia, bilateral",True
1558,Potter sequence,True
6411,sinonasal undifferentiated carcinoma,True
1998,Foster-Kennedy syndrome,True
20355,coloboma of eye lens,True
19159,Loeffler endocarditis,True
18765,cryptogenic multifocal ulcerous stenosing enteritis,True
16611,lipoblastoma,True
5845,meningoencephalitis,True
5851,Miller Fisher syndrome,True
16496,pharyngeal-cervical-brachial variant of Guillain-Barre syndrome,True
16498,acute pure sensory neuropathy,True
16499,acute pandysautonomia,True
16500,acute sensory ataxic neuropathy,True
19208,Bickerstaff brainstem encephalitis,True
20348,acute motor and sensory axonal neuropathy,True
20349,acute motor axonal neuropathy,True
1590,quadriplegia,True
19487,epilepsy with myoclonic absences,True
10085,Schilder disease,True
43472,ectopic ACTH secretion syndrome,True
1167,spastic diplegia,True
22697,athetoid cerebral palsy,True
20695,hypotonic cerebral palsy,True
400,mixed cerebral palsy,True
5907,persian gulf syndrome,True
44275,obsolete carotid intimal medial thickness 1,True
6086,angiomyxoma,True
44784,myxoma,False
1323,infant gynecomastia,True
6961,scrapie,False
11556_13876_13101_13102_13104_13105_13106,"basal cell carcinoma, susceptibility to",True
966,pleomorphic lipoma,True
11805_12607_12067_12379_12577_12666_12771_13180,"asthma-related traits, susceptibility to",True
43287,superior vena cava syndrome,True
12292_12488,"hepatitis C virus, susceptibility",True
5684,bulbar polio,True
3073,trilateral retinoblastoma,True
1250,keratomalacia,True
20382,multifocal pattern dystrophy simulating fundus flavimaculatus,True
20485,King-Denborough syndrome,True
17486,"radial hemimelia, unilateral",True
17487,"radial hemimelia, bilateral",True
6837,low tension glaucoma,True
2027,avoidant personality disorder,True
1157,dependent personality disorder,True
327,Buruli ulcer disease,True
15250,spinal atrophy-ophthalmoplegia-pyramidal syndrome,True
18450,spinal muscular atrophy with respiratory distress type 2,True
43458,radiation injury,True
1969,mixed gonadal dysgenesis,True
4234,chronic lymphoproliferative disorder of NK-cells,True
19469,T-cell large granular lymphocyte leukemia,True
10368,immunodeficiency without anhidrotic ectodermal dysplasia,True
15988_19982_19981,multicystic dysplastic kidney,True
3083,venous hemangioma,True
5006,clear cell sarcoma of kidney,True
3865,acral lentiginous melanoma (disease),True
22732,obsolete chorea minor,True
16322,neuroendocrine cell hyperplasia of infancy,True
7020,Wernicke encephalopathy,True
22754,chromosome 17p deletion,True
22846,congenital nonhemolytic jaundice,True
16979,MRCS syndrome,True
17439,tetra-amelia,True
100209_26404_26426,"X inactivation, familial skewed",True
16839,distal 17p13.3 microdeletion syndrome,True
15713,idiopathic central precocious puberty,True
2839,leather-bottle stomach,True
6749,mixed epithelioid and spindle cell melanoma,True
6596,photoallergic dermatitis,True
13532,protein Z deficiency,True
16676,recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome,True
12865,Pseudofolliculitis barbae,True
13696,chromosome 2P16.3 deletion syndrome,True
8204,"obsolete patella aplasia, coxa vara, and tarsal synostosis",True
6774,habitual spontaneous abortion,True
14488_11027_11072_11363_11955,"diabetes mellitus, noninsulin-dependent",True
19549,severe early-onset axonal neuropathy due to MFN2 deficiency,True
100289,Goldmann-Favre syndrome,True
19780,anotia,False
18072,persistent truncus arteriosus (disease),True
5959,sick building syndrome,True
25028,vesicular stomatitis,True
17165,bile acid CoA ligase deficiency and defective amidation,True
19177,odontoleukodystrophy,True
42970,disorder of glutamate decarboxylase,True
23119,familial myelofibrosis,True
2479_379,Sertoli-Leydig cell tumor,True
17288,DICER1 syndrome,True
5505,dysembryoplastic neuroepithelial tumor,True
4591,impetigo herpetiformis,True
16597,generalized pustular psoriasis,True
18452,deficiency of the interleukin-36 receptor antagonist,True
15598,acrodermatitis continua suppurativa of Hallopeau,True
17683,methylcobalamin deficiency type cblDv1,True
16976,well-differentiated thymic neuroendocrine carcinoma,True
16977,moderately-differentiated thymic neuroendocrine carcinoma,True
16978,poorly differentiated thymic neuroendocrine carcinoma,True
17391,Grayson-Wilbrandt corneal dystrophy,True
17392,pre-descemet corneal dystrophy,True
20363,honey-droplet corneal dystrophy,True
20365,congenital hereditary endothelial dystrophy type I,True
6740,empty sella syndrome,True
13251,Birbeck granule deficiency,True
6465,thyroid gland oncocytic follicular carcinoma,True
11836,thyroid Hurthle cell carcinoma,True
17079,meningoencephalocele,True
17080,occipital encephalocele,True
16710,medulloblastoma with extensive nodularity,True
18952,argyria,False
18477,bilirubin encephalopathy,True
6567,kernicterus due to isoimmunization,True
15040,myelodysplastic syndrome with excess blasts-1,True
15041,myelodysplastic syndrome with excess blasts-2,True
19456,acute myeloid leukemia with multilineage dysplasia,True
14826,nucleoside diphosphate-linked moiety X Motif 15 deficiency,True
1655,dissociated nystagmus,True
1361,spontaneous ocular nystagmus,True
18840,isolated congenital hepatic fibrosis,True
20307,"benign childhood occipital epilepsy, Panayiotopoulos type",True
15545,macrophage activation syndrome,True
100231,"psoriatic arthritis, susceptibility to, 1",True
21660,deep seated dermatophytosis,True
1698,tinea profunda,True
8945,myoclonic cerebellar dyssynergia,True
24351,familial pityriasis rubra pilaris,True
18346,ferro-cerebro-cutaneous syndrome,True
6767,gastric antral vascular ectasia,True
1712,alexia,False
16050,thiamine-responsive encephalopathy,True
15084,FRAXF syndrome,True
14008,phosphohydroxylysinuria,True
19644,"renal dysplasia, unilateral",True
19645,"renal dysplasia, bilateral",True
3397,gingival hypertrophy,True
6280,lung sclerosing hemangioma,True
13076_12149_12150_12151_12152_12862_12863,"attention deficit-hyperactivity disorder, susceptibility to",True
14057,"maple syrup urine disease, mild variant",True
16786,partial hydatidiform mole,True
4665,nodular sclerosis classical Hodgkin lymphoma,True
20327,"classic Hodgkin lymphoma, nodular sclerosis type",True
2075,spontaneous tension pneumothorax,True
18070,familial multiple fibrofolliculoma,True
1798,hypermobility syndrome,True
4216,pineal region germinoma,True
5892,otitis media with effusion,True
43875,tumor lysis syndrome,True
6089,appendix goblet cell carcinoid,True
18017,goblet cell carcinoma,True
43224,multi-infarct dementia,True
108_13723_13724,"bacteremia, susceptibility to",True
162_11980_11981_11982_11983,"autoimmune thyroid disease, susceptibility",True
222,seminal vesicle acute gonorrhea,True
225,human monocytic ehrlichiosis,True
227,African tick-bite fever,True
229,Indian tick typhus,True
230,Israeli tick typhus,True
231,Far eastern spotted fever,True
232,Flinders island spotted fever,True
234,Rickettsia parkeri spotted fever,True
236,oropharyngeal anthrax,True
238,pestis minor,True
239,adiaspiromycosis,True
241,Keshan disease,True
243,ectothrix infectious disease,True
244,endothrix infectious disease,True
245,tinea imbricata,True
250,osmotic diarrheal disease,True
251_44762_44763,diarrheal disease secondary to altered bowel motility,True
252,inflammatory diarrhea,True
259,asymptomatic dengue,True
261,adenoiditis,True
271,tuberculous salpingitis,True
273,Kunjin virus infectous disease,True
276,Powassan encephalitis,True
282,Whitewater Arroyo hemorrhagic fever,True
283,"Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type",True
284,"Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type",True
288,polycystic echinococcosis,True
290,primary amebic meningoencephalitis,True
291,granulomatous amebic encephalitis,True
292,philophthalmiasis,True
293,coenurosis,False
294,mesocestoidiasis,True
295,acanthocephaliasis,True
298,dioctophymiasis,True
299,thelaziasis,True
301,ophthalmomyiasis,True
302_45038_45039,basidiobolomycosis,True
303,conidiobolomycosis,True
309,aniseikonia,True
310,Alkhurma hemorrhagic fever,True
320,glandular tularemia,True
321,typhoidal tularemia,True
331,Rickettsia helvetica spotted fever,True
332,sennetsu fever,True
335,parenchymatous neurosyphilis,True
336,meningovascular neurosyphilis,True
339,spinal polio,True
340,bulbospinal polio,True
342,O'nyong'nyong fever,True
343,Barmah forest virus disease,True
344,Ross river fever,True
345,Oropouche fever,True
346,"Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type",True
363,gummatous syphilis,True
373,gall bladder carcinoma in situ,True
375,bronchus carcinoma in situ,True
378,malignant Sertoli cell tumor,True
407,malignant pleural solitary fibrous tumor,True
417,early onset absence epilepsy,True
446,midface dysplasia,True
452,progressive relapsing multiple sclerosis,True
457,classical glioblastoma,True
458,proneural glioblastoma,True
459,mesenchymal glioblastoma,True
460,neural glioblastoma,True
480,anismus,False
481,cervical dystonia,True
483,oculogyric crisis,True
485,spasmodic dystonia,True
487,hemidystonia,True
488,periampullary adenoma,True
489,diabetic encephalopathy,True
491,limb ischemia,True
492,chronic venous insufficiency,True
496,hemorrhagic cystitis,True
503,lung adenocarcinoma in situ,True
513,bone ameloblastoma,True
516,phalanx chondroma,True
518,sacrum chordoma,True
519,corpus callosum oligodendroglioma,True
520,parietal lobe ependymal tumor,True
531,bronchus mucoepidermoid carcinoma,True
532,lung combined type small cell adenocarcinoma,True
534,trachea mucoepidermoid carcinoma,True
539,striated muscle rhabdoid tumor,True
543,ovarian melanoma,True
545,sublingual gland adenoid cystic carcinoma,True
549,cervical neuroblastoma,True
553,uterine corpus endometrial carcinoma,True
554,endocervical adenocarcinoma,True
563,GRID2-related autosomal dominant spinocerebellar ataxia,True
572,recombinase activating gene 1 deficiency,True
573,recombinase activating gene 2 deficiency,True
583,immunoglobulin beta deficiency,True
584,B cell linker protein deficiency,True
597,Munchausen by proxy,True
610,marantic endocarditis,True
615,progesterone-receptor positive breast cancer,True
639,cartilage cancer,True
659,delta-heavy chain disease,True
660,akinetopsia,True
661,alexithymia,True
662,amusia,False
663,anosognosia,True
664,apperceptive agnosia,True
666,associative visual agnosia,True
668,autotopagnosia,True
669,color agnosia,True
670,cortical deafness,True
672,form agnosia,True
673,integrative agnosia,True
674,mirror agnosia,True
675,pain agnosia,True
676,phonagnosia,True
677,semantic agnosia,True
678,simultanagnosia,True
679,social emotional agnosia,True
681,tactile agnosia,True
682,time agnosia,True
683,topographical agnosia,True
684,verbal auditory agnosia,True
686,alexia without agraphia,True
687,diffuse alopecia areata,True
690,body dysmorphic disorder,True
704,lymphocytic colitis,True
706,chemical colitis,True
707,diversion colitis,True
708,Crohn jejunoileitis,True
710,gastroduodenal Crohn disease,True
715,lymph node adenoid cystic carcinoma,True
716,agraphia,False
726_5488_100076,idiopathic scoliosis,True
739,uvulitis,False
740,adenoid hypertrophy,True
741,angular cheilitis,True
743,oral hairy leukoplakia,True
749,breast abscess,True
750,dental abscess,True
756,parameningeal embryonal rhabdomyosarcoma,True
757,glucocorticoid-induced osteoporosis,True
758,bacillary angiomatosis,True
769,chicken egg allergy,True
770,shellfish allergy,True
775,drug allergy,True
782,Indian plum allergy,True
784,melon allergy,True
807,latex allergy,True
811,anomalous left coronary artery from the pulmonary artery,True
813,cardiac tuberculosis,True
815,fetal nicotine spectrum disorder,True
840,dysbaric osteonecrosis,True
849,fibrogenesis imperfecta ossium,True
871,T-cell childhood acute lymphocytic leukemia,True
874,T-cell childhood lymphoblastic lymphoma,True
882,myeloid and lymphoid neoplasms associated with PDGFRA rearrangement,True
883,myeloid neoplasms associated with PDGFRB rearrangement,True
884,myeloid and lymphoid neoplasms associated with FGFR1 abnormalities,True
889,haemophilus meningitis,True
890,Zika virus congenital syndrome,True
892,colon medullary carcinoma,True
893,mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma,True
894,mucinous bronchioloalveolar adenocarcinoma,True
895,nonmucinous bronchioloalveolar adenocarcinoma,True
898,malignant hemangioma,True
901,relapsed/refractory diffuse large B-cell lymphoma,True
923,interstitial emphysema,True
924,compensatory emphysema,True
925,hyperlucent lung,True
928,eyelid melanoma,True
929,balloon cell malignant melanoma,True
930,nodular malignant melanoma,True
934,laryngeal leiomyoma,True
935,larynx squamous papilloma,True
936,syphilitic meningitis,True
937,syphilitic encephalitis,True
938,gastric leiomyoma,True
941,eyelid degenerative disease,True
943,acute hydrops keratoconus,True
946,psychologic vaginismus,True
950,asthenopia,False
953,cancer of short bone of lower limb,True
957,lacrimal passage granuloma,True
961,endobronchial lipoma,True
962,spindle cell lipoma,True
963,esophageal lipoma,True
964,skin lipoma,True
967,conventional lipoma,True
968,kidney lipoma,True
969,pleural lipoma,True
970,breast lipoma,True
971,chest wall lipoma,True
972,gallbladder lipoma,True
973,external ear lipoma,True
974,axillary lipoma,True
975,lipoma of spermatic cord,True
977,chondroid lipoma,True
978,extrahepatic bile duct lipoma,True
981,Histoplasma pericarditis,True
983,exhibitionism,True
987,cholesterolosis of gallbladder,True
988,discharging ear,True
3674_990,subendocardial myocardial infarction,True
996,prostate lymphoma,True
997,monocular esotropia,True
1001,baritosis,False
1003,pneumoconiosis due to talc,True
1004,slate pneumoconiosis,True
1005,kaolin pneumoconiosis,True
1006,glaucomatous atrophy of optic disc,True
1009,solitary cyst of breast,True
1015,eosinophilic meningitis,True
1017,epididymal adenocarcinoma,True
1021,ametropic amblyopia,True
1022,disuse amblyopia,True
1025,seminal vesicle chronic gonorrhea,True
1028,acute pericementitis,True
1030,"keratoconus, stable condition",True
1032,Mooren ulcer,True
1034,marginal corneal ulcer,True
1035,hypopyon ulcer,True
1037,ring corneal ulcer,True
1038,perforated corneal ulcer,True
1041,dentin caries,True
1042,patellar tendinitis,True
1048,orbital granuloma,True
1049,Dressler syndrome,True
1052,chronic fungal otitis externa,True
1053,acute infection of pinna,True
1057,malignant gastric granular cell tumor,True
1060,microinvasive gastric cancer,True
1062,pyloric antrum cancer,True
1064_2170,eustachian salpingitis,True
1066,late yaws,False
1067,early yaws,False
1073,idiopathic progressive polyneuropathy,True
1074,chronic tic disorder,True
1079,pancreatic steatorrhea,True
1086,partial optic atrophy,True
1087,schizotypal personality disorder,True
1088,acute inferoposterior infarction,True
1089,acute inferolateral myocardial infarction,True
1091,lipoma of colon,True
1093,colonic lymphangioma,True
1096,mediastinum ganglioneuroblastoma,True
1099,lactocele,False
1101,fat necrosis of breast,True
1109,petrositis,False
1113,Fiedler's myocarditis,True
1118,Queensland tick typhus,True
1121_1120_1912,frontal sinusitis,True
1123_1624,sphenoidal sinusitis,True
1127,tibialis tendinitis,True
1129,nasal cavity olfactory neuroblastoma,True
1130,nasal cavity lymphoma,True
1132,sexual sadism disorder,True
1135,voyeurism,False
1136,chylocele of tunica vaginalis,True
1137,Murray valley encephalitis,True
1138,angiodysplasia of intestine,True
1139,sexual masochism disorder,True
1141,middle ear cholesterol granuloma,True
1144_1145,third-nerve palsy,True
1148,iliac vein thrombophlebitis,True
1153,gender dysphoria,True
1154,Siberian tick typhus,True
1155,gastrojejunal ulcer,True
1159,multiple personality disorder,True
1161,schizoid personality disorder,True
1163,paranoid personality disorder,True
1172_1171_1474,salpingo-oophoritis,True
1174,conjunctival vascular disease,True
1175,immature cataract,True
1177,anorectal stricture,True
1178,pseudopterygium,True
1179,pinguecula,False
1180,bullous keratopathy,True
1181,secondary corneal edema,True
1182,idiopathic corneal edema,True
1183,contact lens corneal edema,True
17236_1184,rapidly progressive glomerulonephritis,True
1188,esophagus lymphoma,True
1190_1857_1973,Brucella brucellosis,True
1192,esophageal melanoma,True
1199,dislocation of ear ossicle,True
1202,prostatic cyst,True
1203,prolapse of lacrimal gland,True
1205,hypersecretion glaucoma,True
1206,aqueous misdirection,True
1207,neonatal respiratory failure,True
1211,total internal ophthalmoplegia,True
1213,serous glue ear,True
1215,allescheriosis,True
1216,pulp degeneration,True
1217_20843,pseudomembranous conjunctivitis,True
1218,acute laryngopharyngitis,True
1219,serous conjunctivitis except viral,True
1224,Angelucci syndrome,True
1227,chronic tympanitis,True
1228,conjunctival folliculosis,True
1231,orbital periostitis,True
1232,orbital osteomyelitis,True
1233,orbital tenonitis,True
1234,adhesive otitis media,True
1237,appendix lymphoma,True
1238,polycythemia neonatorum,True
1241,transient neonatal neutropenia,True
1251_1338,apical periodontitis,True
1252,Plummer disease,True
1257,retinal microaneurysm,True
1260,cercarial dermatitis,True
1262,African histoplasmosis,True
1263,histoplasmosis retinitis,True
1268,gingival recession,True
1272,functional diarrhea,True
1274,anal spasm,False
1277,cerebral arteritis,True
1281,alternating exotropia,True
1282,fallopian tube endometriosis,True
1284,endometriosis of intestine,True
1285,endometriosis of pelvic peritoneum,True
1287,endometriosis in cutaneous scar,True
1288,endometriosis of rectovaginal septum and vagina,True
1291,brain compression,True
1295,idiopathic peripheral autonomic neuropathy,True
1301,rumination disorder,True
1302,hypertensive heart disease,True
1304,benign hypertensive renal disease,True
1307,corneal abscess,True
1310,Bowman's membrane folds or rupture,True
1313,acute allergic serous otitis media,True
1317,phlyctenulosis,True
1319,bladder lateral wall cancer,True
1320,ring staphyloma,True
1326,dental pulp necrosis,True
1327,pelvic muscle wasting,True
1329,accommodative spasm,True
1330,presbyopia,False
1335,hypotrichosis of eyelid,True
1337,inflamed seborrheic keratosis,True
1339,portal vein thrombosis,True
1345,antidepressant type abuse,True
1349,odontoclasia,True
1350,parametrium malignant neoplasm,True
1352,round ligament malignant neoplasm,True
1353,Bordetella parapertussis infectious disease,True
1355,ocular siderosis,True
1360,blind hypotensive eye,True
1363,blind hypertensive eye,True
1364_1831,astigmatism,True
1365,necrosis of ear ossicle,True
1366,splenic sequestration,True
1368,phthisical cornea,True
1372,bladder neck cancer,True
1373,urinary bladder posterior wall cancer,True
1374,bladder sarcoma,True
1375,bladder trigone cancer,True
1376,urinary bladder anterior wall cancer,True
1379,ureteric orifice cancer,True
1381,bladder lymphoma,True
1383,degenerative myopia,True
1385,cortical blindness,True
1387,penile sarcoma,True
1388,glans penis cancer,True
1390,transient refractive change,True
1391,indeterminate leprosy,True
1392,monocular exotropia,True
1394,chronic erythremia,True
1395,macular keratitis,True
1396,abnormal threshold of rods,True
1399_2222,ureter/urethra leiomyoma,True
1400,schwannoma of ureter,True
1401,female breast nipple and areola cancer,True
1408,ischemic neuropathy,True
1412,conjunctival concretion,True
1413,ulceroglandular tularemia,True
1415,atrophy of testis,True
1417,tracheal lymphoma,True
1418,trachea sarcoma,True
1424,sarcoid meningitis,True
1426,mediastinum neurofibroma,True
1427,Dieulafoy lesion,True
1428,pylorospasm,True
1430,deep corneal vascularisation,True
1431,toxic or nutritional optic neuropathy,True
1434,inflammatory spondylopathy,True
1435,bullous retinoschisis,True
1439,episcleritis periodica fugax,True
1441,pica disease,True
1443,tympanosclerosis,True
1449,lymphocytic choriomeningitis,True
1452,pseudoretinitis pigmentosa,True
1453,senile reticular retinal degeneration,True
1454,Blessig's cysts,True
1456,cobblestone retinal degeneration,True
1458,ulnar nerve lesion,True
1460,dyshormonogenic goiter,True
1463,splenic flexure cancer,True
1468,synovial plica syndrome,True
1469,cascade stomach,True
1471,histoplasmosis meningitis,True
1472,testicular lymphoma,True
1473,medulloadrenal hyperfunction,True
1480,malignant tumor of undescended testis,True
1481,femoral vein thrombophlebitis,True
1482,testicular leukemia,True
1485,atypical depressive disorder,True
1491,cough variant asthma,True
1492,kyphoscoliotic heart disease,True
1495,hematocele of tunica vaginalis testis,True
1496,male genital organ stricture,True
1497,male genital organ vascular disease,True
1498,varicocele,False
1499,retroperitoneal lymphoma,True
1503,primary eye hypotony,True
1504,fetishism,False
1506,prostatocystitis,True
1508,patulous eustachian tube,True
1510,lateral displacement of eye,True
1511,thyrotoxic exophthalmos,True
1512,intermittent proptosis,True
1513,pulsating exophthalmos,True
1514,prolapse of urethra,True
1518,spastic entropion,True
1522,pyromania,False
1523,luxation of globe,True
1525,thyrocalcitonin secretion disease,True
1527,conjugate gaze palsy,True
1533,pes anserinus tendinitis or bursitis,True
1534,ocular hyperemia,True
1536,vaginal leiomyoma,True
1537,tuberculous epididymitis,True
1538,retinal ischemia,True
1539,retinal perforation,True
1541,plantar nerve lesion,True
1542,common peroneal nerve lesion,True
1544,tibial nerve palsy,True
1546,hypermobility of coccyx,True
1547,atrophic nonflaccid tympanic membrane,True
1551,ulceration of vulva,True
1553,phacolytic glaucoma,True
1557,olecranon bursitis,True
1559,perineocele,True
1562,displacement of cardia through esophageal hiatus,True
1565,abnormal retinal correspondence,True
1568,mixed receptive-expressive language disorder,True
21159_1575_1837,gonococcal salpingitis,True
1578,hernia of ovary and fallopian tube,True
1579,corneal staphyloma,True
1580,lacrimal duct cancer,True
1582,cicatricial ectropion,True
1585,hallucinogen abuse,True
1588,chronic lacrimal gland enlargement,True
1591,senile entropion,True
1596,hypochondriasis,True
1598,benign lymphoepithelial lesion of salivary gland,True
1600,mucocele of salivary gland,True
1602,labia minora carcinoma,True
1606,central nervous system leukemia,True
1607,intrapelvic lymph node leukemic reticuloendotheliosis,True
1611,phlegmonous dacryocystitis,True
1614,intra-abdominal lymph node mast cell malignancy,True
1615,epidemic keratoconjunctivitis,True
1616,lobomycosis,True
1620,louse-borne relapsing fever,True
1621,tick-borne relapsing fever,True
1622,mechanical lagophthalmos,True
1626,traumatic glaucoma,True
1629,Jaccoud syndrome,True
1634,bladder leiomyoma,True
1635,bladder squamous papilloma,True
1636,mechanical entropion,True
1637,cicatricial entropion,True
1638,protein-deficiency anemia,True
1640,gonococcal spondylitis,True
1642,hordeolum externum,True
1643,exophthalmic ophthalmoplegia,True
1647,benign renovascular hypertension,True
1652,scrotum melanoma,True
1653,prepuce cancer,True
1654,spermatic cord cancer,True
1658,nontoxic goiter,True
1660,proliferative diabetic retinopathy,True
1663,hole retinal cyst,True
1664,submucous uterine fibroid,True
1665,oculoglandular tularemia,True
1666,retinal dystrophies primarily involving Bruch's membrane,True
1668,internal pathological resorption of tooth,True
1671,mucocele of appendix,True
1678,intestinal tuberculosis,True
1680,vaginal mullerian papilloma,True
1681,diphtheritic cystitis,True
1682,diphtheritic peritonitis,True
1683,pancreatic mucinous ductal ectasia,True
1685,chronic follicular conjunctivitis,True
1686,anatomical narrow angle borderline glaucoma,True
1688,toxic optic neuropathy,True
1689,hypertrophy of tongue papillae,True
1690,parasitic conjunctivitis,True
1691,laryngeal cartilage cancer,True
1692,pedophilia,False
1693,ego-dystonic sexual orientation,True
1694,diffuse interstitial keratitis,True
1695,senile ectropion,True
1702,labia majora carcinoma,True
1706,cerebral sarcoidosis,True
1707,cardiac sarcoidosis,True
1709,hypercalcemic sarcoidosis,True
1710,perforation of bile duct,True
1715,basilar artery occlusion,True
1716,corneal argyrosis,True
1719,gonococcal bursitis,True
1720,gonococcal synovitis,True
1721,urethral intrinsic sphincter deficiency,True
1722,central pterygium,True
1727,active cochleovestibular Meniere disease,True
1728,active vestibular Meniere disease,True
1729,active cochlear Meniere disease,True
1730,urethral syndrome,True
1733,occlusion of tributary of retinal vein,True
1736,neonatal infective mastitis,True
1737,tetanus neonatorum,True
1739,purulent labyrinthitis,True
1740,cornea squamous cell carcinoma,True
1743,paranasal sinus lymphoma,True
1745,subserous uterine fibroid,True
1746,optic disk drusen,True
1747,tibial collateral ligament bursitis,True
45051_1749,cortical cataract,True
1750,non-renal secondary hyperparathyroidism,True
1753,female infertility of uterine origin,True
1754,eclampsia,False
1758,paranasal sinus sarcoma,True
1760,photokeratitis,True
1762,dentine erosion,True
1765,polyneuropathy in collagen vascular disease,True
1766,eversion of lacrimal punctum,True
1767,stenosis of lacrimal punctum,True
1768,stenosis of lacrimal passage,True
1769,acquired tear duct stenosis,True
1771,infective urethral stricture,True
1772,ulcer of anus and rectum,True
1773,post-vaccinal encephalitis,True
1776,prostate calculus,True
1777,acute gonococcal cystitis,True
1778,dermoid cyst of skin,True
1779,vaginal squamous papilloma,True
1781,uterine corpus adenomatoid tumor,True
1782,mature cataract,True
1783,endometrial stromal nodule,True
1784,malignant renovascular hypertension,True
1787,hepatic infarction,True
1788,nutmeg liver,True
1789,neurofibroma of spinal cord,True
1790,spinal cord lipoma,True
1791,neonatal urinary tract infectious disease,True
1792,epiphora due to insufficient drainage,True
1799,localized anterior staphyloma,True
1800,equatorial staphyloma,True
1801,staphyloma posticum,True
1802,acute tympanitis,True
1805,female breast central part cancer,True
1808,chronic subinvolution of uterus,True
1809,adhesions of uterus,True
1811,tetanic cataract,True
1813,squamous blepharitis,True
1815,extrapyramidal and movement disease,True
1816,scleroperikeratitis,True
1818,facial neuralgia,True
1820,focal labyrinthitis,True
1832,bacterial esophagitis,True
1838,acute gonococcal prostatitis,True
1841,uterine corpus epithelioid leiomyoma,True
1842,uterine corpus dissecting leiomyoma,True
1843,uterus interstitial leiomyoma,True
1844,uterine corpus myxoid leiomyoma,True
1845,uterine corpus lipoleiomyoma,True
1846,uterine corpus bizarre leiomyoma,True
1847,nuclear senile cataract,True
1848,Morgagni cataract,True
1850,female breast lower-outer quadrant cancer,True
1851_2124,lacrimal atrophy,True
1855,rubeosis iridis,True
1856,splenic artery aneurysm,True
1858,Tietze syndrome,True
1859,algoneurodystrophy,True
1861,malignant parietal pleura tumor,True
1862,malignant visceral pleura tumor,True
1863,aorta atresia,True
1867,phaeohyphomycosis,True
1870,acute poststreptococcal glomerulonephritis,True
1873,geniculate ganglionitis,True
1876,renal artery atheroma,True
1877,infertility due to extratesticular cause,True
1880,median rhomboid glossitis,True
1883,blue toe syndrome,True
1884,abducens nerve neoplasm,True
1885,lateral cystocele,True
1886,midline cystocele,True
1887,Allen-Masters syndrome,True
1888,anus lymphoma,True
1890,pulp erosion,True
1892,spinal cord lymphoma,True
1893,spinal cord melanoma,True
1894,spinal cord sarcoma,True
1897_3567,bilateral labyrinth,True
1899,rheumatic congestive heart failure,True
1903,calcific tendinitis,True
1904,polyneuropathy due to drug,True
1905,bicipital tenosynovitis,True
1906_2310,dislocation of lens,True
1914,scleromalacia perforans,True
1916,gastrointestinal tularemia,True
1917_2240,perichondritis of pinna,True
1918,epiphora due to excess lacrimation,True
1919,cystoid macular retinal degeneration,True
1921,chronic atticoantral disease,True
1923,vitreoretinal dystrophy,True
1924,dystrophies primarily involving the retinal pigment epithelium,True
1925,retinal dystrophy in systemic or cerebroretinal lipidoses,True
1936,brawny scleritis,True
1939,skin epithelioid hemangioma,True
1940,pleuropneumonia,True
1944,mixed malaria,True
1946,hyperestrogenism,True
1947,suppurative thyroiditis,True
1948,Riedel's fibrosing thyroiditis,True
1949,acute thyroiditis,True
1950,corneal ectasia,True
1959_2106,labyrinthine reactive loss,True
1962,abnormality of glucagon secretion,True
1965,sclerosing keratitis,True
1972,Brucella melitensis brucellosis,True
1974,hemangioma of orbit,True
1975,cavernous hemangioma of orbit,True
1976,chorea gravidarum,True
1977,ureteral lymphoma,True
1978,regional ureteric cancer,True
1983_2449,degeneration of cornea,True
1984,candidal paronychia,True
1985,partial arterial retinal occlusion,True
1986,Argyll Robertson pupil,True
1988,external pathological resorption,True
1990,malignant cardiac peripheral nerve sheath neoplasm,True
1991,malignant cardiac germ cell tumor,True
1992,rete testis adenocarcinoma,True
1993,seminal vesicle adenocarcinoma,True
1995,sphenoid sinus squamous cell carcinoma,True
1997,root resorption,True
2000,anaerobic meningitis,True
2002,postsurgical hypothyroidism,True
2004,atheroembolism of kidney,True
2014,"autosomal recessive Ehlers-Danlos syndrome, vascular type",True
2029,chronic gonorrhea of cervix,True
2042,mechanical ectropion,True
2044,spastic ectropion,True
2047,pulmonary systemic sclerosis,True
2055,benign eccrine breast spiradenoma,True
2057,breast leiomyoma,True
2062,breast myofibroblastoma,True
2064,breast angiomatosis,True
2066_2065,breast adenomyoepithelioma,True
2067,female breast upper-inner quadrant cancer,True
2068,female breast lower-inner quadrant cancer,True
2069,female breast axillary tail cancer,True
2072,melanotic neuroectodermal tumor,True
2074,Behcet syndrome arthropathy,True
2077,low implantation of placenta,True
2085,benign shuddering attacks,True
2086,clear cell acanthoma,True
2092,small intestine leiomyoma,True
2096,malignant conjunctival melanoma,True
2101,facial nerve neoplasm,True
2104,conversion disorder,True
2107,unilateral hyperactive labyrinth,True
2110,adrenal rest tumor,True
2112,benign peritoneal mesothelioma,True
2117,pancreas sarcoma,True
2128,mononeuritis multiplex,True
2130,upper limb mononeuronitis,True
2136,eczematous dermatitis of eyelid,True
2138,allergic contact dermatitis of eyelid,True
2139,sigmoid disease,True
2141,cutaneous undifferentiated pleomorphic sarcoma,True
2143,vaginal yolk sac tumor,True
2152,intermittent squint,True
2153,telogen effluvium,True
2159,fallopian tube leiomyosarcoma,True
2162,fallopian tube adenosarcoma,True
2163,thymus lipoma,True
2164_1393,focal chorioretinitis,True
2174,preretinal fibrosis,True
2184,drug-induced hepatitis,True
2188,vulvar nodular hidradenoma,True
2190,vulvar syringoma,True
2192,vulvar angiokeratoma,True
2196,perinatal intestinal perforation,True
2197,minor vestibular glands adenoma,True
2199,benign mixed tumor of the vulva,True
2200,eccrine mixed tumor of skin,True
2201,vulvar trichoepithelioma,True
2202,outlet dysfunction constipation,True
2204,transient arthritis,True
2207,vulval Paget disease,True
2212,pneumonic tularemia,True
2218,temporal lobe cancer,True
2223,ovarian malignant mesothelioma,True
2224,malignant ovarian cyst,True
2226,tuberculous oophoritis,True
2227,ovarian lymphoma,True
2230,ovarian Wilms tumor,True
2237,carbuncle,False
2239,post-surgical hypoinsulinemia,True
2250,basilar artery insufficiency,True
2252,granulomatous hepatitis,True
2255,hypertrophic elongation of cervix,True
2262,capillary lymphangioma,True
2265,stereotypic movement disorder,True
2266,malt worker's lung,True
2272,polyclonal hypergammaglobulinemia,True
2275,generalized atherosclerosis,True
2287,glandular cystitis,True
2293,cutaneous ganglioneuroma,True
2301,frontal sinus squamous cell carcinoma,True
2318,trachea leiomyoma,True
2327,intracranial cavernous angioma,True
2338,extratemporal epilepsy,True
2340,tactile epilepsy,True
2347,barbiturate dependence,True
2357,hepatic flexure cancer,True
2359,periosteal chondroma,True
2361,transverse colon cancer,True
2365,kidney hemangiopericytoma,True
2368,papillary serous cystadenocarcinoma,True
2371,breast pericanalicular fibroadenoma,True
2375,sebaceous adenoma,True
2376,spleen angiosarcoma,True
2377,breast intracanalicular fibroadenoma,True
2382,benign mesenchymoma,True
2383,Pacinian tumor,True
2385,benign cystic nephroma,True
2387,liver angiosarcoma,True
2388,intracystic papillary adenoma,True
2396,nephrogenic adenofibroma,True
2401,malignant tenosynovial giant cell tumor,True
2410,pyeloureteritis cystica,True
2414,gastric hemangioma,True
2416,ethmoid sinus squamous cell carcinoma,True
2418,ethmoid sinus adenocarcinoma,True
2424,rectosigmoid carcinoma,True
2432,malignant neoplasm of acoustic nerve,True
2434,oculomotor nerve cancer,True
2437,dehydration polycythemia,True
2440,erythropoietin polycythemia,True
2451,benign prostate phyllodes tumor,True
2452,prostate leiomyoma,True
2455,exocervical carcinoma,True
2469,lacrimal gland carcinoma ex pleomorphic adenoma,True
2487,breast granular cell tumor,True
2495,colon signet ring cell adenocarcinoma,True
2496,submucosal invasive colon adenocarcinoma,True
2509,non-specific granulomatous orchitis,True
2511,stenosis of lacrimal sac,True
2517,tenosynovitis of foot and ankle,True
2526,dermal unilateral segmental cavernous angioma,True
2534,fallopian tube papilloma,True
2535,verrucous papilloma,True
2541,spinal cord oligodendroglioma,True
2549,schwannoma of twelfth cranial nerve,True
2551,c-P angle neurinoma,True
2552,vascular myelopathy,True
2554,sympathetic neurilemmoma,True
2555,trigeminal schwannoma,True
2556,microcystic/reticular schwannoma,True
2563,jejunal somatostatinoma,True
2568,tracheal stenosis,True
2569,gastric dilatation,True
2574,prostate embryonal rhabdomyosarcoma,True
2576,embryonal extrahepatic bile duct rhabdomyosarcoma,True
2581,spindle cell rhabdomyosarcoma,True
2582,subacute leukemia,True
2583,mucinous ovarian cystadenoma,True
2587,encapsulated thymoma,True
2590,combined thymoma,True
2592,invasive malignant thymoma,True
2594,monkeypox,False
2595,vaccinia,False
2599,teratocarcinoma,True
2605,hepatic angiomyolipoma,True
2606,epithelioid type angiomyolipoma,True
2613,histrionic personality disorder (disease),True
2617,bone angiosarcoma,True
2618,undifferentiated high grade pleomorphic sarcoma of bone,True
2619,bone fibrosarcoma,True
2624,bone leiomyosarcoma,True
2625,Ewing sarcoma of bone,True
2626,spinal accessory nerve neoplasm,True
2627,chondroblastic osteosarcoma,True
2630,small cell osteogenic sarcoma,True
2632,metachronous osteosarcoma of the bone,True
2634,liposarcoma of bone,True
2641,subclavian artery aneurysm,True
2642,trochlear nerve neoplasm,True
2644,idiopathic granulomatous myositis,True
2645,cerebritis,False
2646,viral laryngitis,True
2649,scrotum Paget disease,True
2653,Paget disease of the penis,True
2666,pancreatic signet ring cell adenocarcinoma,True
2667,gallbladder signet ring cell adenocarcinoma,True
2669,ampullary signet ring cell adenocarcinoma,True
2671,signet ring cell breast carcinoma,True
2672,"acinar prostate adenocarcinoma, signet ring variant",True
2674,stricture or kinking of ureter,True
2680,chronic wasting disease,True
2683,adult choroid plexus neoplasm,True
2685,childhood choroid plexus carcinoma,True
2693,lateral sinus thrombosis,True
2694,cavernous sinus thrombosis,True
2701,ovarian mucinous cystadenocarcinoma,True
2703,appendix mucinous cystadenocarcinoma,True
2705,breast mucinous cystadenocarcinoma,True
2706,cervix endometriosis,True
2710,infiltrating angiolipoma,True
2712,epidural spinal canal angiolipoma,True
2716,childhood spinal cord tumor,True
2717,spinal cord intramedullary teratoma,True
2719,conus medullaris neoplasm,True
2729,rhabdoid tumor of the kidney,True
2734,anal mucinous adenocarcinoma,True
2736,ampulla of vater mucinous adenocarcinoma,True
2740,uterine ligament mucinous adenocarcinoma,True
2744,fallopian tube mucinous adenocarcinoma,True
2747,endometrial mucinous adenocarcinoma,True
2750,bladder colloid adenocarcinoma,True
2754,extramedullary plasmacytoma,True
2755,solitary osseous plasmacytoma,True
2756,solitary plasmacytoma of chest wall,True
2757,acute allergic sanguinous otitis media,True
2758,vulva verrucous carcinoma,True
2759,bladder verrucous carcinoma,True
2761,cervical verrucous carcinoma,True
2762,esophagus verrucous carcinoma,True
2763,urethral verrucous carcinoma,True
2765,plantar verrucous skin carcinoma,True
2769,leukorrhea,False
2775,anovulation,True
2778,epidural spinal canal meningioma,True
2779,central nervous system chondroma,True
2781,glossopharyngeal nerve paralysis,True
2783,Shwartzman phenomenon,True
2791,large cell medulloblastoma,True
2792,cerebellar vermis medulloblastoma,True
2799,nodular medulloblastoma,True
2808,pancreatic serous cystadenoma,True
2811,main bronchus cancer,True
2812,infectious otitis interna,True
2821,trabecular follicular adenocarcinoma,True
2822,trabecular adenocarcinoma,True
2828,Bartholin gland transitional cell carcinoma,True
2831,non-keratinizing sinonasal squamous cell carcinoma,True
2832,endometrial transitional cell carcinoma,True
2833,fallopian tube transitional cell carcinoma,True
2840,eosinophilic gastritis,True
2842,bacterial gastritis,True
2843,fungal gastritis,True
2844,lymphocytic gastritis,True
2845,necrotizing gastritis,True
2846,granulomatous gastritis,True
2850,central nervous system rhabdomyosarcoma,True
2851,mediastinum rhabdomyosarcoma,True
2855,ectomesenchymoma,True
2856,gallbladder rhabdomyosarcoma,True
2858,ovary rhabdomyosarcoma,True
2859,breast rhabdomyosarcoma,True
2860,testis rhabdomyosarcoma,True
2863,rhabdomyosarcoma with mixed embryonal and alveolar features,True
2864,anus rhabdomyosarcoma,True
2868,bile duct mucinous cystic neoplasm with an associated invasive carcinoma,True
2870,tricuspid valve insufficiency,True
2878,uterine corpus adenosarcoma,True
2880,ovarian adenosarcoma,True
2881,vaginal adenosarcoma,True
2899,differentiating neuroblastoma,True
2900,cerebral neuroblastoma,True
2903,articulation disorder,True
2910,peroneal neuropathy,True
2916,brainstem intraparenchymal clear cell meningioma,True
2920,malignant ovarian Brenner tumor,True
2923,uterine corpus endometrial stromal sarcoma,True
2929,pulmonary immaturity,True
2931,conjunctivochalasis,True
2934,intravascular angioleiomyoma,True
2935,penis basal cell carcinoma,True
2936,scrotum basal cell carcinoma,True
2937,nodular basal cell carcinoma,True
2938,metatypical basal cell carcinoma,True
2940,anal margin basal cell carcinoma,True
2942,sebaceous basal cell carcinoma,True
2943,external ear basal cell carcinoma,True
2945,micronodular basal cell carcinoma,True
2946,gynatresia,False
2947,adamantinoid basal cell epithelioma,True
2948,skin fibroepithelial basal cell carcinoma,True
2949,morpheaform basal cell carcinoma,True
2950,skin clear cell basal cell carcinoma,True
2952,follicular basal cell carcinoma,True
2953,skin infiltrative basal cell carcinoma,True
2955,vulva basal cell carcinoma,True
2957,sarcomatoid basal cell carcinoma,True
2958,signet ring basal cell carcinoma,True
2959,radiculopathy,True
2960,polyradiculopathy,True
2961,large cell acanthoma,True
2962,epidermolytic acanthoma,True
2963,acantholytic acanthoma,True
2965,parovarian cyst,True
2968,lymphocele,False
2972,posterior mediastinum cancer,True
2975,malignant breast melanoma,True
2976,stomach diverticulosis,True
2981,peripheral primitive neuroectodermal tumor of bone,True
2982,peripheral primitive neuroectodermal tumor of soft tissues,True
2984,reticulohistiocytic granuloma,True
2987,spongiotic dermatitis,True
2988,cervix melanoma,True
2993,pancreatic somatostatinoma,True
2996,cavernous sinus meningioma,True
3003,cervical alveolar soft part sarcoma,True
3007,childhood kidney cell carcinoma,True
3010,multilocular clear cell renal cell carcinoma,True
3011,mucinous tubular and spindle renal cell carcinoma,True
3017,malignant peritoneal solitary fibrous tumor,True
3021,central nervous system angiosarcoma,True
3022,pediatric angiosarcoma,True
3023,aorta angiosarcoma,True
3024,breast angiosarcoma,True
3025,conventional angiosarcoma,True
3026,gallbladder angiosarcoma,True
3027,thyroid gland angiosarcoma,True
3029,skin angiosarcoma,True
3030,endometrioid stromal sarcoma of the cervix,True
3033,prostate angiosarcoma,True
3034,mediastinum angiosarcoma,True
3035,ovarian angiosarcoma,True
3039,nominal aphasia,True
3041,pediatric mesenchymal chondrosarcoma,True
3045,anal gland neoplasm,True
3047,thymic large cell neuroendocrine carcinoma,True
3049,ovarian large-cell neuroendocrine carcinoma,True
3051,non specific chronic endometritis,True
3052,granulomatous endometritis,True
3053,choroid plexus meningioma,True
3065,nasal cavity inverting papilloma,True
3066,submandibular adenitis,True
3068,postauricular lymphadenitis,True
3069,suppurative lymphadenitis,True
3070,axillary lymphadenitis,True
3076,unilateral retinoblastoma,True
3082,filamentary keratitis,True
3084,uremic neuropathy,True
3086,thymic mucoepidermoid carcinoma,True
3087,mucoepidermoid breast carcinoma,True
3089,extrahepatic bile duct mucoepidermoid carcinoma,True
3091,cutaneous mucoepidermoid carcinoma,True
3092,lacrimal gland mucoepidermoid carcinoma,True
3093,mucoepidermoid esophageal carcinoma,True
3095,laryngeal mucoepidermoid carcinoma,True
3097,childhood mediastinal neurogenic neoplasm,True
3104,epicardium cancer,True
3108,cervicomedullary junction neoplasm,True
3115,subglottic hemangioma,True
3118,testicular Brenner tumor,True
3128,classic pulmonary blastoma,True
3129,epithelial predominant pulmonary blastoma,True
3133,exudative glomerulonephritis,True
3136,anti-basement membrane glomerulonephritis,True
3140,immune-complex glomerulonephritis,True
3141,cerebellopontine angle embryonal tumor,True
3147,space motion sickness,True
3152,adult brainstem gliosarcoma,True
3154,hemangioma of peripheral nerve,True
3157,Gorham disease,True
3163,cauda equina intradural extramedullary astrocytoma,True
3168,cerebellar pilocytic astrocytoma,True
3170,gliofibroma,True
3171,pineal gland astrocytoma,True
3172,glomeruloid hemangioma,True
3174,spinal cord astrocytoma,True
3177,prostate adenoid cystic carcinoma,True
3180,cutaneous adenocystic carcinoma,True
3181,lung adenoid cystic carcinoma,True
3185,adenoid cystic breast carcinoma,True
3187,Bartholin gland adenoid cystic carcinoma,True
3189,middle ear adenocarcinoma,True
3191,rete ovarii adenocarcinoma,True
3202,pituitary gland basophilic carcinoma,True
3205,renal pelvis adenocarcinoma,True
3206,acquired hemangioma,True
3211,nasal cavity adenocarcinoma,True
3216,ureter adenocarcinoma,True
3219,gastroesophageal junction adenocarcinoma,True
3223,meninges hemangiopericytoma,True
3231,acute nonparalytic poliomyelitis,True
24649_3234_3931,optic tract astrocytoma,True
3245,aflatoxin-related hepatocellular carcinoma,True
3246,sclerosing hepatic carcinoma,True
3251,esophageal granular cell tumor,True
3253,vulvar granular cell tumor,True
3254,cardiac granular cell neoplasm,True
3255,mediastinal granular cell myoblastoma,True
3256,neurohypophysis granular cell tumor,True
3258,hobnail hemangioma,True
3261,papillary meningioma of the cerebellum,True
3264,basosquamous carcinoma,True
3271,iodine hypothyroidism,True
3278,inner ear cancer,True
3279,testicular infarct,True
3280,swayback,False
3284,mediastinum leiomyoma,True
3285,fallopian tube leiomyoma,True
3286,extrahepatic bile duct leiomyoma,True
3287,central nervous system leiomyoma,True
3289,deep leiomyoma,True
3290,simple partial epilepsy,True
3292,anus leiomyoma,True
3294,pericardium leiomyoma,True
3297,gallbladder leiomyoma,True
3298,vulvar leiomyoma,True
3300,appendix leiomyoma,True
3301,dartoic leiomyoma,True
3302,epithelioid neurofibroma,True
3303,neurofibroma of gallbladder,True
3305,cellular neurofibroma,True
3306,atypical neurofibroma,True
3307,multiple mucosal neuroma,True
3310,Monckeberg arteriosclerosis,True
3312,ovarian endometrioid stromal and related neoplasms,True
3313,endometrioid stromal sarcoma of the vagina,True
3316,nonanaplastic kidney Wilms tumor,True
3317,metachronous kidney Wilms' tumor,True
3318,mixed cell type kidney Wilms' tumor,True
3320,blastema predominant kidney Wilms tumor,True
3322,epithelial predominant Wilms' tumor,True
3326,intermixed schwannian stroma-rich ganglioneuroblastoma,True
3328,fallopian tube adenomatoid tumor,True
3332,malignant struma ovarii,True
3336,acute necrotizing encephalitis,True
3340,malignant glomus tumor,True
3341,subungual glomus tumor,True
3343,retinal hemangioblastoma,True
3347,inflammatory leiomyosarcoma,True
3348,conventional leiomyosarcoma,True
3349,central nervous system leiomyosarcoma,True
3350,granular cell leiomyosarcoma,True
3351,colon leiomyosarcoma,True
3353,heart leiomyosarcoma,True
3355,ovary leiomyosarcoma,True
3357,lung leiomyosarcoma,True
3358,anus leiomyosarcoma,True
3360,small intestine leiomyosarcoma,True
3364,gallbladder leiomyosarcoma,True
3365,esophagus leiomyosarcoma,True
3368,prostate leiomyosarcoma,True
3369,vagina leiomyosarcoma,True
3370,retroperitoneal leiomyosarcoma,True
3371,breast leiomyosarcoma,True
3372,vulvar leiomyosarcoma,True
3373,kidney leiomyosarcoma,True
3374,laryngeal leiomyosarcoma,True
3376,mediastinum leiomyosarcoma,True
3377,extrahepatic bile duct leiomyosarcoma,True
3383,fallopian tube clear cell adenocarcinoma,True
3384,uterine ligament clear cell adenocarcinoma,True
3387,urethra clear cell adenocarcinoma,True
3388,ampulla of vater clear cell adenocarcinoma,True
3390,glycogen-rich clear cell breast carcinoma,True
3391,vulvar alveolar soft part sarcoma,True
3398,anterograde amnesia,True
3399,pineal region yolk sac tumor,True
3404,adult yolk sac tumor,True
3410,Wolffian duct adenocarcinoma,True
3411,breast hemangiopericytoma,True
3412,retroperitoneal hemangiopericytoma,True
3414,skin pilomatrix carcinoma,True
3417,internuclear ophthalmoplegia,True
3419,Bartholin gland adenoma,True
3423,middle ear adenoma,True
3431,lipoadenoma,True
3433,water-clear cell adenoma,True
3437,occult small cell lung carcinoma,True
3439,urinary bladder villous adenoma,True
3446,papillary hidradenoma,True
3447,clear cell hidradenoma,True
3450,eccrine papillary adenoma,True
3452,cochlear disease,True
3453,conjunctival intraepithelial neoplasm,True
3458,uterine corpus adenofibroma,True
3459,cervical adenofibroma,True
3462,papillary adenofibroma,True
3465,fibrous synovial sarcoma,True
3466,spindle cell synovial sarcoma,True
3467,mediastinum synovial sarcoma,True
3468,biphasic synovial sarcoma,True
3469,epithelioid cell synovial sarcoma,True
3477,brain stem ependymoma,True
3480,pineal region dysgerminoma,True
3487,pseudoglandular squamous cell carcinoma,True
3492,lacrimal gland squamous cell carcinoma,True
3494,ovarian squamous cell carcinoma,True
3497,renal pelvis squamous cell carcinoma,True
3499,sarcomatoid squamous cell skin carcinoma,True
3502,ureter squamous cell carcinoma,True
3503,fallopian tube squamous cell carcinoma,True
3505,femoral cancer,True
3506,pulmonary artery choriocarcinoma,True
3509,pineal region choriocarcinoma,True
3515,fallopian tube teratoma,True
3519,malignant syringoma,True
3522,male orgasm disorder,True
3524,gastric gastrin-producing neuroendocrine tumor,True
3528,Volkmann contracture,True
3529,acute pyelonephritis,True
3530,aggressive digital papillary adenocarcinoma,True
3534,papillary thymic adenocarcinoma,True
3535,fallopian tube papillary adenocarcinoma,True
3539,T-cell adult acute lymphocytic leukemia,True
3545,intradural extramedullary spinal canal neoplasm,True
3548,adenosquamous breast carcinoma,True
3551,thymic adenosquamous carcinoma,True
3553,ampulla of vater adenosquamous carcinoma,True
3554,adenosquamous colon carcinoma,True
3555,Bartholin gland adenosquamous carcinoma,True
3556,endometrial adenosquamous carcinoma,True
3557,optic nerve sheath meningioma,True
3558,adenosquamous prostate carcinoma,True
3561,malignant giant cell tumor of soft parts,True
3563,diffuse pulmonary fibrosis,True
3564,localized pulmonary fibrosis,True
3565,urethral villous adenoma,True
3568,disorder of optic chiasm,True
3572,nasopharyngeal type undifferentiated carcinoma,True
3573,pleomorphic carcinoma,True
3575,comedocarcinoma,True
3585,adult liposarcoma,True
3586,esophagus liposarcoma,True
3587,pediatric liposarcoma,True
3588,larynx liposarcoma,True
3590,fibroblastic liposarcoma,True
3592,gastric liposarcoma,True
3593,breast liposarcoma,True
3594,mixed liposarcoma,True
3596,spindle cell liposarcoma,True
3598,median nerve neuropathy,True
3599,vulvar liposarcoma,True
3600,cutaneous liposarcoma,True
3601,mediastinum liposarcoma,True
3602,intracranial liposarcoma,True
3609,seminal vesicle cystadenoma,True
3610,rete ovarii cystadenoma,True
3611,uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease,True
3616,salpingitis isthmica nodosa,True
3618,pyosalpinx,False
3621,small intestinal vasoactive intestinal peptide producing tumor,True
3622,pancreatic vasoactive intestinal peptide producing tumor,True
3624,acinic cell breast carcinoma,True
3626,uterine ligament serous adenocarcinoma,True
3627,rheumatic pulmonary valve disease,True
3629,uterine corpus serous adenocarcinoma,True
3630,pancreatic serous cystadenocarcinoma,True
3635,sebaceous breast carcinoma,True
3636,vulvar sebaceous carcinoma,True
3637,clear cell-sugar-tumor of the lung,True
3638,lung meningioma,True
3640,verruciform xanthoma of skin,True
3643,giant hemangioma,True
3644,cavernous hemangioma of colon,True
3647,atrophic flaccid tympanic membrane,True
3650,mixed hepatoblastoma,True
3651,macrotrabecular hepatoblastoma,True
3654,childhood parosteal osteosarcoma,True
3655,cerebral lymphoma,True
3663,uterine ligament endometrioid adenocarcinoma,True
3666,fallopian tube endometrioid adenocarcinoma,True
3670,posteroinferior myocardial infarction,True
3671,septal myocardial infarction,True
3675,posterolateral myocardial infarction,True
3680,periosteal chondrosarcoma,True
3682,localized chondrosarcoma,True
3684,clear cell chondrosarcoma,True
3685,retroperitoneal germ cell neoplasm,True
3687,endocardium cancer,True
3688_6364,well differentiated papillary mesothelioma,True
3690,adult anaplastic ependymoma,True
3691,childhood malignant mesenchymoma,True
3692,adult malignant mesenchymoma,True
3694,ovarian clear cell cystadenofibroma,True
3697,non-invasive verrucous carcinoma of the penis,True
3700,brachial plexus neoplasm,True
3701,thyroid gland diffuse sclerosing papillary carcinoma,True
3702,uterus intravascular leiomyomatosis,True
3704,uterine corpus diffuse leiomyomatosis,True
3705,adult brainstem mixed glioma,True
3706,adult brainstem astrocytoma,True
3707,distal biliary tract carcinoma,True
3708,extrahepatic bile duct small cell adenocarcinoma,True
3710,ovarian mixed germ cell neoplasm,True
3712,angiokeratoma of mibelli,True
3713,angiokeratoma circumscriptum,True
3714,bladder urachal squamous cell carcinoma,True
3720,kidney fibrosarcoma,True
3721,kidney osteogenic sarcoma,True
3722,internal auditory canal meningioma,True
3723,blunt duct adenosis of breast,True
3726,apocrine adenosis of breast,True
3727,animal phobia,True
3728,breast fibrosarcoma,True
3736,cancerophobia,True
3737,malignant testicular Leydig cell tumor,True
3738,selective IgE deficiency disease,True
3740,AIDS phobia,True
3741,juvenile type testicular granulosa cell tumor,True
3742,heart fibrosarcoma,True
3743,heart malignant hemangiopericytoma,True
3745,choroid spindle cell melanoma,True
3746,ciliary body spindle cell melanoma,True
3747,telangiectatic glomangioma,True
3748,flying phobia,True
3753,nasal vestibule squamous papilloma,True
3754,Brown-Sequard syndrome,True
3759,childhood ovarian yolk sac tumor,True
3764,pediatric leptomeningeal melanoma,True
3768,signet ring cell variant cervical mucinous adenocarcinoma,True
3769,herpetic gastritis,True
3770,thoracic spinal canal and spinal cord meningioma,True
3771,jugular foramen meningioma,True
3773,intracerebral cystic meningioma,True
3775,lateral ventricle meningioma,True
3776,renal pelvis inverted papilloma,True
3782,uterine corpus epithelioid leiomyosarcoma,True
3784,nasal cavity carcinoma in situ,True
3786,childhood testicular choriocarcinoma,True
3788,childhood embryonal testis carcinoma,True
3790,prostatic urethra urothelial carcinoma,True
3796,rectum Kaposi sarcoma,True
3800,conventional malignant hemangiopericytoma,True
3801,corneal intraepithelial neoplasm,True
3806,thyroid hyalinizing trabecular adenoma,True
3808,mediastinal extraskeletal osteosarcoma,True
3809,malignant mediastinum hemangiopericytoma,True
3810,bladder diffuse clear cell adenocarcinoma,True
3818,childhood mature teratoma of the ovary,True
3824,hereditary kidney oncocytoma,True
3826,mediastinum seminoma,True
3827_15698,transient hypogammaglobulinemia,True
3828,growth hormone-producing pituitary gland carcinoma,True
3830_3831,papillary adenoma of the kidney,True
3835,gastric cardia adenocarcinoma,True
3836,malignant thyroid stimulating hormone producing neoplasm of pituitary gland,True
3839,ovarian mucinous adenocarcinofibroma,True
3840,epicardium lipoma,True
3842,childhood cerebellar astrocytic neoplasm,True
3845,corpus callosum lipoma,True
3846,viral esophagitis,True
3848,ectopic thymus,True
3850,clivus chondroid chordoma,True
3851,ovarian fetiform teratoma,True
3852,ovarian solid teratoma,True
3856,adult malignant hemangiopericytoma,True
3857,adult intracranial malignant hemangiopericytoma,True
3858,anterior optic tract meningioma,True
3859,bilateral meningioma of optic nerve,True
3860,cerebellopontine angle meningioma,True
3862,melanotic psammomatous malignant peripheral nerve sheath tumor,True
3866,liver extraskeletal osteosarcoma,True
3867,diffuse meningeal melanocytosis,True
3868,anterior foramen magnum meningioma,True
3870,childhood brainstem astrocytoma,True
3872,ovarian papillary cystadenoma,True
3873,ovarian surface papilloma,True
3874,ovarian serous surface papillary adenocarcinoma,True
3879,ovarian endometrioid adenocarcinofibroma,True
3880,ceruminous carcinoma,True
3881,vulvar apocrine adenocarcinoma,True
3882,central nervous system fibrosarcoma,True
3884,lipoma of the rectum,True
3888,childhood testicular mixed embryonal carcinoma and teratoma,True
3889,"infiltrating bladder urothelial carcinoma, clear cell variant",True
3891,bladder signet ring cell adenocarcinoma,True
3892,acinar lung adenocarcinoma,True
3893,rete testis adenoma,True
3894,mediastinal melanocytic neurilemmoma,True
3895,periosteal osteogenic sarcoma,True
3896,breast capillary hemangioma,True
3897,breast epithelioid hemangioma,True
3898,pediatric myxoid chondrosarcoma,True
3901,cerebellar hemangioblastoma,True
3902,brain stem hemangioblastoma,True
3903,benign vaginal mixed tumor,True
3904,lung occult squamous cell carcinoma,True
3905,"ovarian yolk sac tumor, glandular pattern",True
3906,"ovarian yolk sac tumor, hepatoid pattern",True
3907,"ovarian yolk sac tumor, polyvesicular vitelline pattern",True
3908_4503_4511,clivus meningioma,True
3909,Bartholin gland adenomyoma,True
3911,ciliary body mixed cell melanoma,True
3913,choroid mixed cell melanoma,True
3915,cortical thymoma,True
3917,heart lymphoma,True
3921,posterior foramen magnum meningioma,True
3922,ovarian clear cell malignant adenofibroma,True
3925,ethmoid sinus inverted papilloma,True
3926,neurilemmoma of the pleura,True
3928,uterine corpus myxoid leiomyosarcoma,True
3929,vestibular micropapillomatosis,True
3933,chest wall bone cancer,True
3934,breast apocrine carcinoma,True
3935,oncocytic breast carcinoma,True
3936,invasive tubular breast carcinoma,True
3938,bladder colonic type adenocarcinoma,True
3940,Kummell disease,True
3941,classic variant of chromophobe renal cell carcinoma,True
3942,eosinophilic variant of chromophobe renal cell carcinoma,True
3943,central nervous system hibernoma,True
3944,endobronchial leiomyoma,True
3945,bone epithelioid hemangioma,True
3946,vaginal villous adenoma,True
3952,adult central nervous system choriocarcinoma,True
3953,pediatric CNS choriocarcinoma,True
3955,juvenile breast papillomatosis,True
3956,Baastrup syndrome,True
3957,adult pineoblastoma,True
3959,breast large cell neuroendocrine carcinoma,True
3962,Froelich syndrome,True
3963,diffuse infiltrative lymphocytosis syndrome,True
3965,Capgras syndrome,True
3966,testicular monophasic choriocarcinoma,True
3967,synchronous multifocal osteogenic sarcoma,True
3968,asynchronous multifocal osteogenic sarcoma,True
3971,gastric pylorus carcinoma,True
3973,tubular variant testicular seminoma,True
3976,malignant type AB thymoma,True
3978,colon small cell neuroendocrine carcinoma,True
3979,intrahepatic bile duct cystadenoma,True
3980,schwannoma of jugular foramen,True
3983,synchronous bilateral breast carcinoma,True
3984,internal auditory canal lipoma,True
3988,sternum lymphoma,True
3989,polyembryoma of the ovary,True
3990,malignant breast myoepithelioma,True
3991,villoglandular endometrial endometrioid adenocarcinoma,True
3993,childhood vagina botryoid rhabdomyosarcoma,True
3995_4013,vagina botryoid embryonal rhabdomyosarcoma,True
3997,colon Kaposi sarcoma,True
3998,vaginal tubular adenoma,True
4006,rete ovarii cystadenofibroma,True
4008,flat ductal epithelial atypia,True
4009,kidney pelvis sarcomatoid transitional cell carcinoma,True
4014,ethmoid sinus ectopic meningioma,True
4017,pineal region immature teratoma,True
4019,oxyphilic endometrial endometrioid adenocarcinoma,True
4020,mediastinal gray zone lymphoma,True
4024,spinal cord neuroblastoma,True
4028,small intestinal fibrosarcoma,True
4031,ovary mixed epithelial carcinoma,True
4032,ovarian seromucinous carcinoma,True
4033,familial ovarian carcinoma,True
4035,glomangiomatosis,True
4039,papillary extrahepatic bile duct adenocarcinoma,True
4040,urinary bladder inverted papilloma,True
4042,urethra inverted papilloma,True
4043,ureter inverted papilloma,True
4045,pediatric intraocular retinoblastoma,True
4046,childhood brain meningioma,True
4048,immature gastric teratoma,True
4049,combat disorder,True
4050,telangiectatic osteogenic sarcoma,True
4051,aleukemic monocytic leukemia cutis,True
4052,rectal cloacogenic carcinoma,True
4054,acute canaliculitis,True
4056,bladder papillary urothelial carcinoma,True
4057,micropapillary variant infiltrating bladder urothelial carcinoma,True
4059,dentin sensitivity,True
4065,intermediate cell type choroid melanoma,True
4066,intermediate cell type ciliary body melanoma,True
4067,gallbladder mucinous adenocarcinoma,True
4074,ovarian mucinous cystadenofibroma,True
4076,tendon sheath lipoma,True
4077,lumbosacral lipoma,True
4078,mucinous intrahepatic cholangiocarcinoma,True
4079,lung mucous gland adenoma,True
4082,childhood immature teratoma of ovary,True
4083,Borst-Jadassohn intraepidermal carcinoma,True
4085,choroid epithelioid cell melanoma,True
4086,ciliary body epithelioid cell melanoma,True
4087,basaloid large cell lung carcinoma,True
4088,cervical basaloid carcinoma,True
4089,basaloid carcinoma of the penis,True
4090,vulvar basaloid squamous cell carcinoma,True
4092,thymic basaloid carcinoma,True
4093,esophageal basaloid carcinoma,True
4094,multiple skull base meningioma,True
4096,spinal cord dermoid cyst,True
4098,malignant melanocytic peripheral nerve sheath tumor of mediastinum,True
4100,lung mixed small cell and squamous cell carcinoma,True
4101,multicentric papillary thyroid carcinoma,True
4102,columnar cell variant thyroid gland papillary carcinoma,True
4103,tall cell variant thyroid gland papillary carcinoma,True
4104,splenic manifestation of hairy cell leukemia,True
4106,"testicular yolk sac tumor, macrocystic pattern",True
4108,diaphragma sellae meningioma,True
4110,refractory hairy cell leukemia,True
4112,radiation cystitis,True
4116,esophageal small cell neuroendocrine carcinoma,True
4117,ampulla of vater small cell neuroendocrine carcinoma,True
4118,cystitis cystica,True
4120,Bartholin gland small cell carcinoma,True
4122,thymus small cell carcinoma,True
4124,prostate stromal sarcoma,True
4127,lung occult adenocarcinoma,True
4128,lung occult large cell carcinoma,True
4129,cloacogenic carcinoma,True
4130,anus basaloid carcinoma,True
4131,anal verrucous carcinoma,True
4133,pituitary gland mixed eosinophil-basophil adenoma,True
4134,benign dermal neurilemmoma,True
4135,subacute lymphocytic thyroiditis,True
4136,ovarian endometrioid cystadenoma,True
4140,intermediate malignant teratoma,True
4142,lung combined large cell neuroendocrine carcinoma,True
4147,noninvasive malignant thymoma,True
4148,gallbladder papillary neoplasm with an associated invasive carcinoma,True
4149,gallbladder pleomorphic giant cell adenocarcinoma,True
4150,breast giant fibroadenoma,True
4151,spinal meninges cancer,True
4152,chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation,True
4153,childhood central nervous system embryonal carcinoma,True
4155,adult central nervous system embryonal carcinoma,True
4158,pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma,True
4159,pancreatic non-invasive mucinous cystadenocarcinoma,True
4161,uterine corpus apoplectic leiomyoma,True
4162,uterine corpus cellular leiomyoma,True
4163,bladder urachal urothelial carcinoma,True
4164,lymphoepithelioma-like acinar prostate adenocarcinoma,True
4165,selective IgD deficiency disease,True
4166,hereditary fallopian tube carcinoma,True
4168,cribriform variant testicular seminoma,True
4169,premenstrual tension,True
4170,nodular episcleritis,True
4172,uterine corpus adenocarcinofibroma,True
4173,adenocarcinoma of skene gland origin,True
4174,secretory uterine corpus endometrioid adenocarcinoma,True
4175,mucin-rich endometrial endometrioid adenocarcinoma,True
4178,"testicular yolk sac tumor, endodermal sinus pattern",True
4181,breast adenomyoepithelial adenosis,True
4182,stage IVb bladder cancer,True
4185,ovarian serous cystadenofibroma,True
4186,cranial nodular fasciitis,True
4189,esophageal tuberculosis,True
4190,nephrogenic adenoma of urinary bladder,True
4193,pediatric ovarian dysgerminoma,True
4194,ovarian stromal hyperthecosis,True
4195,thymic dysplasia,True
4196,rectal sarcomatoid carcinoma,True
4198,"testicular yolk sac tumor, solid pattern",True
4199,vulvar keratinizing squamous cell carcinoma,True
4200,superficial urinary bladder carcinoma,True
4201,pituitary hypoplasia,True
4203,female urethral cancer,True
4204,squamous cell skin papilloma,True
4205,lymphohistiocytoid mesothelioma,True
4206,pulmonary vein leiomyosarcoma,True
4207,pulmonary artery leiomyosarcoma,True
4208,superior vena cava leiomyosarcoma,True
4212,vulvar keratoacanthoma-like carcinoma,True
4213,vulvar non-keratinizing squamous cell carcinoma,True
4214,ovarian endometrioid cystadenofibroma,True
4217,childhood brain germinoma,True
4218,childhood germ cell brain tumor,True
4219,polyvesicular vitelline pattern testicular yolk sac tumor,True
4220,endometrial endometrioid adenocarcinoma with spindled epithelial cells,True
4221,uterine corpus perivascular epithelioid cell tumor,True
4222,ovarian clear cell cystadenocarcinoma,True
4223,polyp of middle ear,True
4225,monoclonal gammopathy of uncertain significance,True
4226_4254,intraductal papillomatosis,True
4227,epididymal adenomatoid tumor,True
4229,acantholytic variant squamous cell breast carcinoma,True
4231,spindle cell variant squamous cell breast carcinoma,True
4232,large cell keratinizing variant squamous cell breast carcinoma,True
17386_4233_4513,pleomorphic rhabdomyosarcoma,True
4236,duodenal somatostatinoma,True
4237,large cell carcinoma with rhabdoid phenotype,True
4238,petrous apex meningioma,True
4239,cervical keratinizing squamous cell carcinoma,True
4240,posterior urethra cancer,True
4243,vulvar proximal-type epithelioid sarcoma,True
4248,pediatric infratentorial ependymoma,True
4249,pediatric supratentorial ependymoma,True
4250,extrahepatic bile duct papillary adenoma,True
4252,small intestinal L-cell glucagon-like peptide producing tumor,True
4255,Wolffian adnexal tumor,True
4256,lumbar spinal canal and spinal cord meningioma,True
4257,childhood central nervous system mixed germ cell tumor,True
4258,female orgasmic disorder,True
4260,peptic ulcer perforation,True
4261,periductal breast myoepitheliosis,True
4263,pediatric infratentorial ependymoblastoma,True
4266,anal gland adenocarcinoma,True
4268,subareolar duct papillomatosis,True
4269,breast cystic hypersecretory carcinoma,True
4270,breast ductal adenoma,True
4271,pregnancy adenoma,True
4272,urinary bladder tuberculosis,True
4273,breast apocrine adenoma,True
4274,mixed epithelial/mesenchymal metaplastic breast carcinoma,True
4275,osteosarcoma arising in bone Paget disease,True
4276,ceruminoma,False
4278,infiltrating bladder urothelial carcinoma sarcomatoid variant,True
4280,asymmetric motor neuropathy,True
4281,vulvar eccrine porocarcinoma,True
4283,vulvar clear cell hidradenocarcinoma,True
4287,pancreatic foamy gland adenocarcinoma,True
4288,scirrhous breast carcinoma,True
4289,glottis verrucous carcinoma,True
4290,subglottis verrucous carcinoma,True
4292,supraglottis verrucous carcinoma,True
4294,gestational ovarian choriocarcinoma,True
4295,asbestos-related lung carcinoma,True
4296,cervical lymphoepithelioma-like carcinoma,True
4297,lymphoepithelioma-like thymic carcinoma,True
4299,infiltrating bladder lymphoepithelioma-like carcinoma,True
4301,fibrosarcomatous osteosarcoma,True
4302,chief cell adenoma,True
4303,parathyroid gland clear cell adenoma,True
4304,mixed cell type adenoma of parathyroid,True
4305,parathyroid oncocytic adenoma,True
4306,childhood intracortical osteosarcoma,True
4307,sarcomatosis of the meninges,True
4310,"adult embryonal tumor with multilayered rosettes, c19mc-altered",True
4311,carcinoma of Cowper glands,True
4312,suprasellar meningioma,True
4313,gasserian ganglion meningioma,True
4314,malignant cutaneous granular cell skin tumor,True
4315,cholangiolocellular carcinoma,True
4316,acantholytic squamous cell skin carcinoma,True
4317,multiple spinal canal and spinal cord meningioma,True
4318,pulmonary type ovarian small cell carcinoma,True
4319,hypercalcemic type ovarian small cell carcinoma,True
4321,endometrial mixed adenocarcinoma,True
4324,testicular fibroma,True
4325,testicular thecoma,True
4326,sphenoid sinus inverted papilloma,True
4328,maxillary sinus adenocarcinoma,True
4329,pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia,True
4331,bladder urachal adenocarcinoma,True
4333,pancreatic ACTH-producing neuroendocrine tumor,True
4336,rectal signet ring cell adenocarcinoma,True
4337,perianal skin Paget disease,True
4339,tuberculum sellae meningioma,True
4340,mixed ductal-endocrine carcinoma of pancreas,True
4341,colloid carcinoma of the pancreas,True
4343,pancreatic acinar cell cystadenocarcinoma,True
4344,childhood malignant hemangiopericytoma,True
4346,signet ring cell intrahepatic cholangiocarcinoma,True
4349,retina lymphoma,True
4350,pediatric extraocular retinoblastoma,True
4351,intraocular lymphoma,True
4352,adult brain ependymoma,True
4353,extrahepatic biliary papillomatosis,True
4354,neonatal leukemia,True
4360,breast extraskeletal osteosarcoma,True
4361,adult spinal cord ependymoma,True
4363,adult spinal cord glioblastoma,True
4364,choroid necrotic melanoma,True
4366,mixed astrocytoma-ependymoma-oligodendroglioma,True
4367,petroclival meningioma,True
4368,sphenoorbital meningioma,True
4370,sphenocavernous meningioma,True
4371,spinal multifocal clear cell meningioma,True
4374,adult extraskeletal osteosarcoma,True
4376,infiltrating nipple syringomatous adenoma,True
4377,pancreatic non-functioning delta cell tumor,True
4378,pediatric cerebral ependymoblastoma,True
4381,pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia,True
4383,adult central nervous system germinoma,True
4384,maxillary sinus inverted papilloma,True
4386,uterine corpus atypical polypoid adenomyoma,True
4387,luteoma of pregnancy,True
4393,mixed astrocytoma-ependymoma,True
4394,maxillary sinus squamous cell carcinoma,True
4396,cervical spinal canal and spinal cord meningioma,True
4397,benign mediastinal psammomatous neurilemmoma,True
4400,malignant type A thymoma,True
4401,testis refractory cancer,True
4402,"testicular yolk sac tumor, glandular-alveolar pattern",True
4404,refractory precursor T-lymphoblastic lymphoma/leukemia,True
4405,Barrett adenocarcinoma,True
4406,adult central nervous system mixed germ cell tumor,True
4407,stroma-dominant and stroma-poor composite ganglioneuroblastoma,True
4408,schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma,True
4409,nipple duct carcinoma,True
4410,sarcomatoid penile squamous cell carcinoma,True
4411,duodenal gastrin-producing neuroendocrine tumor,True
4413,cervical non-keratinizing squamous cell carcinoma,True
4414,tamoxifen-related endometrial lesion,True
4415,lipid-cell variant infiltrating bladder urothelial carcinoma,True
4416,plasmacytoid variant infiltrating bladder urothelial carcinoma,True
4417,nested variant infiltrating bladder urothelial carcinoma,True
4418,microcystic variant infiltrating bladder urothelial carcinoma,True
4419,lymphoma-like variant infiltrating bladder urothelial carcinoma,True
4420,breast malignant eccrine spiradenoma,True
4421,sclerosing breast papilloma,True
4422,cerebral falx meningioma,True
4423,central nervous system extraskeletal osteosarcoma,True
4424,familial glomangioma,True
4426,frontal convexity meningioma,True
4428,alveoli adenoma,True
4429_24663,skin meningioma,True
4430,penis mixed squamous cell carcinoma,True
4431,hemarthrosis,True
4432,mature pericardial teratoma,True
4435,liver fibrosarcoma,True
4436,ovarian myxoid liposarcoma,True
4439,periocular meningioma,True
4440,pineal region meningioma,True
4441,childhood ovarian embryonal carcinoma,True
4442,testis polyembryoma,True
4443,chest wall parachordoma,True
4444,bladder tubulo-cystic clear cell adenocarcinoma,True
4445,bladder papillary clear cell adenocarcinoma,True
4447,pituitary stalk meningioma,True
4448,frontal sinus inverted papilloma,True
4449,intraductal breast myoepitheliosis,True
4450,carotid artery occlusion,True
4451,sarcomatous intrahepatic cholangiocarcinoma,True
4453,"testicular yolk sac tumor, myxomatous pattern",True
4458,bladder mixed adenocarcinoma,True
4459,bladder hepatoid adenocarcinoma,True
4460,thyroid gland fetal adenoma,True
4461,vaginal tubulovillous adenoma,True
4462,extrahepatic bile duct cystadenoma,True
4463,cellular phase chronic idiopathic myelofibrosis,True
4464,nephrogenic adenoma of the urethra,True
4465,periampullary adenocarcinoma,True
4466,neuronitis,False
4467,mature gastric teratoma,True
4468,anal canal Paget disease,True
4469,pseudovascular skin squamous cell carcinoma,True
4472,breast columnar cell mucinous carcinoma,True
4474,gallbladder lymphoma,True
4475,thymus clear cell carcinoma,True
4477,adrenal gland ganglioneuroblastoma,True
4478,pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma,True
4481,pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma,True
4482,fibroosseous pseudotumor of the digits,True
4483,thyroid gland oncocytic adenoma,True
4484,gallbladder melanoma,True
4485,interstitial myocarditis,True
4486,endocervical type cervical adenomyoma,True
4487,endometrial type cervical adenomyoma,True
4488,cervical atypical polypoid adenomyoma,True
4489,fallopian tube gestational choriocarcinoma,True
4490,gestational uterine corpus choriocarcinoma,True
4492,mediastinitis,True
4493,"testicular yolk sac tumor, papillary pattern",True
4494,"testicular yolk sac tumor, hepatoid pattern",True
4495,myotonic cataract,True
4498,sacral spinal canal and spinal cord meningioma,True
4499,lung hilum carcinoma,True
4500,lung superior sulcus carcinoma,True
4501,fallopian tube cystadenofibroma,True
4502,parapharyngeal meningioma,True
4504,penile urethral cancer,True
4505,central breast papilloma,True
4506,microscopic breast papilloma,True
4507,atypical breast papilloma,True
4509,intrahepatic biliary papillomatosis,True
4512,meningeal melanomatosis,True
4516,bulbomembranous urethral cancer,True
4517,ureter tuberculosis,True
4518,anterior urethra cancer,True
4519,synovial angioma,True
4520,intratubular embryonal carcinoma,True
4523,clear cell squamous cell skin carcinoma,True
4524,thyroid gland atypical follicular adenoma,True
4527,congenital granular cell tumor,True
4528,lymph node palisaded myofibroblastoma,True
4529,non-ossifying fibromyxoid tumor,True
4530,early invasive cervical adenocarcinoma,True
4531,sclerosing adenosis of breast,True
4533,perineural angioma,True
4534,microglandular adenosis of breast,True
4535,childhood choriocarcinoma of the ovary,True
4537,intestinal variant cervical mucinous adenocarcinoma,True
4538,endocervical type cervical mucinous adenocarcinoma,True
4541,pseudoglandular variant testicular seminoma,True
4542,"cervical adenosquamous carcinoma, glassy cell variant",True
4543,enteric pattern testicular yolk sac tumor,True
4546,lumbar plexus neoplasm,True
4547,reticular pattern testicular yolk sac tumor,True
4548,adult type testicular granulosa cell tumor,True
4549,cork-handlers' disease,True
4550,malignant cornea melanoma,True
4552,microinvasive cervical squamous cell carcinoma,True
4554,childhood kidney angiomyolipoma,True
4556,carcinoma arising in nasal papillomatosis,True
4557,congenital fibrosarcoma,True
4558,thyroid gland macrofollicular adenoma,True
4559,malignant glandular tumor of peripheral nerve sheath,True
4560,follicular infundibulum tumor,True
4561,retinal melanoma,True
4562,breast apocrine carcinoma in situ,True
4564,thyroid malformation,True
4569,brachial plexus neuropathy from injury,True
4570,intestinal volvulus,True
4572,cyclothymic disorder,True
4575,choline deficiency disease,True
4578,flat retinoschisis,True
4582,rheumatic myocarditis,True
4583,transient retinal arterial occlusion,True
4584,maple bark strippers' lung,True
4586,rheumatoid lung disease,True
4593,Bartholin duct cyst,True
4594,puerperal pulmonary embolism,True
4597,pulmonary embolism and infarction,True
4598,acute cor pulmonale,True
4599,barbiturate abuse,True
4601,ulcer of lower limbs,True
4607,vallecula cancer,True
4613,acute intestinal ischemia,True
4615,upper gum cancer,True
4616,herpetic whitlow,True
4618,diplegia of upper limb,True
4621,upper lip cancer,True
4622,chronic intestinal vascular insufficiency,True
4624,uvula cancer,True
4628,gastroduodenitis,True
4629,subacute delirium,True
4630,substance-induced psychosis,True
4635,postcricoid region cancer,True
4636,lip carcinoma in situ,True
4637,aryepiglottic fold cancer,True
4640,alcoholic gastritis,True
4642,tonsillar pillar cancer,True
4644,subacute monocytic leukemia,True
4646,decubitus ulcer,True
4649,anaerobic pneumonia,True
4650,malignant carotid body paraganglioma,True
4657,disseminated chorioretinitis,True
4659,eye carcinoma in situ,True
4661,trachea carcinoma in situ,True
4662,heterophyiasis,True
4666,metagonimiasis,True
4672,fasciolopsiasis,True
4673,lower lip cancer,True
4677,tinea nigra,True
4679,leukoplakia of vagina,True
4682,retromolar area cancer,True
4684,plantar fibromatosis,True
4687,severe nonproliferative diabetic retinopathy,True
4690,tonsillar fossa cancer,True
4694,hepatopulmonary syndrome,True
4702,uterine cervix leukoplakia,True
4705,liver solitary fibrous tumor,True
4709,occipital lobe neoplasm,True
4713,lower gum cancer,True
4714,atrophic muscular disease,True
4718,xeroderma of eyelid,True
4720,variola minor infection,True
4726,liver inflammatory myofibroblastic tumor,True
4733,pyriform sinus cancer,True
4749,myocardium cancer,True
4752,neurofibroma of the heart,True
4755,monieziasis,True
4757,chronic ethmoidal sinusitis,True
4759,bestiality,False
4760,urethral false passage,True
4762,Taylor syndrome,True
4763,carotid artery dissection,True
4764,fibular collateral ligament bursitis,True
4766,status asthmaticus,True
4769,orbital plasma cell granuloma,True
4771,Fuchs' heterochromic uveitis,True
4772,glaucomatocyclitic crisis,True
4774,gonococcal iridocyclitis,True
4775,lens-induced iridocyclitis,True
4780,strictly posterior acute myocardial infarction,True
4786,chronic cholangitis,True
4787,cervical mullerian papilloma,True
4788,cervix squamous papilloma,True
4792,cancer of isthmus of fallopian tube,True
4799,ulcerative blepharitis,True
4801,unilateral hypoactive labyrinth,True
4810,acute ethmoiditis,True
4813,tuberculous pneumothorax,True
4815,osteosclerotic plasma cell myeloma,True
4816,refractory plasma cell neoplasm,True
4817,non-secretory plasma cell myeloma,True
4819,indolent plasma cell myeloma,True
4824,neonatal candidiasis,True
4826,urethral calculus,True
4827,esophagus squamous cell papilloma,True
4829,Krukenberg carcinoma,True
4832,esophagus leiomyoma,True
4833,plantar fasciitis,True
4834,ischemic fasciitis,True
4835,necrotizing fasciitis,True
4836,intravascular fasciitis,True
4837,neurofibroma of the esophagus,True
4838,orthostatic proteinuria,True
4840,non-congenital cyst of kidney,True
4841,kidney hypertrophy,True
4851,toxic myocarditis,True
4852,gonococcal keratitis,True
4856,rosacea conjunctivitis,True
4858,occlusion of gallbladder,True
4859,hydrops of gallbladder,True
4861,ophthalmia nodosa,True
4862,vitreous abscess,True
4864,acute allergic mucoid otitis media,True
4871,perianal hematoma,True
4874,ganglion or cyst of synovium/tendon/bursa,True
4875,xanthogranulomatous cholecystitis,True
4877,transient neonatal thrombocytopenia,True
4878,female breast upper-outer quadrant cancer,True
4879,senile atrophy of choroid,True
4881,myositis fibrosa,True
4882,angioid streaks of choroid,True
4886,diffuse secondary choroid atrophy,True
4888_4898,circumpapillary choroid dystrophy,True
4889,total central choroidal atrophy,True
4890,partial central choroid dystrophy,True
4893,hypertropia,True
4894,cyclotropia,True
4895,accommodative esotropia,True
4897,hypotropia,False
4899,monofixation syndrome,True
4904,toxic maculopathy,True
4909,urethral gland abscess,True
4911,cardiovascular syphilis,True
4913,alternating esotropia,True
4914,median arcuate ligament syndrome,True
4918,central corneal ulcer,True
4919,infected hydrocele,True
4924,chronic canaliculitis,True
4927,dacryocystocele,True
4929,constant exophthalmos,True
4931,residual stage corticosteroid-induced glaucoma,True
4932,null-cell leukemia,True
4935,acquired carotenemia,True
4936,uterine inversion,True
4939,hallucinogen dependence,True
4940,acute female pelvic peritonitis,True
4942,orbit lymphoma,True
4951,susceptibility to HIV infection,True
4956,metastatic prostate carcinoma,True
4961,stage I endometrioid carcinoma,True
4962,stage II endometrioid carcinoma,True
4969,acute quadriplegic myopathy,True
4973,adenosquamous lung carcinoma,True
4984,basal-like breast carcinoma,True
5013,dedifferentiated chondrosarcoma,True
5030,fetal growth restriction,True
5037,gastric intestinal type adenocarcinoma,True
5050,invasive ductal and lobular carcinoma,True
5063,medullary breast carcinoma,True
5102,undifferentiated (embryonal) sarcoma,True
5104,aJCC grade 1 sarcoma,True
5110,idiopathic cardiomyopathy,True
5118,human granulocytic ehrlichiosis,True
5120,Drosophila C virus infection,True
5121,Enterococcus faecalis infection,True
5122,Pectobacterium carotovorum infection,True
5125,borderline leprosy,True
5126,tuberculoid leprosy,True
5127,lepromatous leprosy,True
5142,Pseudomonas aeruginosa CF5 infection,True
5143,Pseudomonas aeruginosa PA14 infection,True
5163,simian immunodeficiency virus infection,True
5174,acute hypotension,True
5175,aggressive insulitis,True
5176,benign insulitis,True
5179,ovarian adenoma benign,True
5185,chronic childhood arthritis,True
5188,iatrogenic Kaposi's sarcoma,True
5194,Rotavirus infection,True
5195,septic peritonitis,True
5198_6274,vulvar intraepithelial neoplasia,True
5202,atopic IgE-mediated allergic disorder,True
5204,primary antiphospholipid syndrome,True
5238,round cell liposarcoma,True
5250,placental villitis,True
5255,mild heart failure,True
5256,moderate heart failure,True
5257,advanced heart failure,True
5261,pervasive developmental disorder - not otherwise specified,True
5309,spinal fracture,True
5312,pouchitis,False
5319,humerus fracture,True
5325,radius fracture,True
5352,conduct disorder,True
5399,venous thromboembolism,True
5404,myalgic encephalomeyelitis/chronic fatigue syndrome,True
5405,childhood onset asthma,True
5408,diabetes mellitus type 2 associated cataract,True
5410_20546,acute graft vs. host disease,True
5413,cystic fibrosis associated meconium ileus,True
5414,treatment-refractory schizophrenia,True
5418,non-compaction cardiomyopathy,True
5419,metamphetamine dependence,True
5425,podoconiosis,True
5426,MRI defined brain infarct,True
5430,early onset hypertension,True
5432,alcohol and nicotine codependence,True
5434,skin sensitivity to sun,True
5436,postoperative ventricular dysfunction,True
5437,testicular dysgenesis syndrome,True
5438,metastatic malignant neoplasm in the lymph nodes,True
5442,type 1 diabetes nephropathy,True
5443,type 2 diabetes nephropathy,True
5448,hepatitis C induced liver cirrhosis,True
5460,swine influenza,True
5465,methamphetamine-induced psychosis,True
5467,occupation-related stress disorder,True
5470,postprandial hypotension,True
5471,neurally mediated hypotension,True
5476,atrioventricular node disease,True
5481,contact dermatitis due to nickel,True
5482,molar-incisor hypomineralization,True
5483,chemotherapy-induced alopecia,True
5490,large artery stroke,True
5491,Chagas cardiomyopathy,True
5493,delayed encephalopathy after acute carbon monoxide poisoning,True
5511,janus kinase-3 deficiency,True
5533,distal colitis,True
5536,pancolitis,False
5537,perianal Crohn disease,True
5544,hippocampal sclerosis of aging,True
5562_12910_13068,age-related hearing impairment,True
5572,polycythemia due to hypoxia,True
5581,AVL induced bursal lymphoma,True
5585,chemotherapy-induced hypertension,True
5588,chemotherapy-induced oral mucositis,True
5589,thiopurine immunosuppressant-induced pancreatitis,True
5591,pit and fissure surface dental caries,True
5592,smooth surface dental caries,True
5597,cystic renal cell carcinoma,True
5598,dopaminergic neuroblastoma,True
5603,pancreatic tubular adenocarcinoma,True
5610,Kashin-Beck disease,True
5614,pancreatic adenosquamous carcinoma,True
5624,atrophic thyroiditis,True
6636_5630,Actinobacillus infectious disease,True
5632,acute chest syndrome,True
5634,acute hemorrhagic conjunctivitis,True
5639,AIDS related complex,True
5640,akinetic mutism,True
5641,aleutian mink disease,True
5652,Arterivirus infectious disease,True
5658,Astroviridae infectious disease,True
5659,atrophic rhinitis,True
5660,Avulavirus infectious disease,True
5663,Barre-Lieou syndrome,True
5668,bird fancier's lung,True
5671,Blastocystis infectious disease,True
5673,blind loop syndrome,True
5675,border disease,True
5676,borna disease,True
5679,bovine virus diarrhea-mucosal disease,True
5682,bronchopneumonia,True
5690,Caplan syndrome,True
5691,cardiovirus infectious disease,True
5695,central nervous system AIDS arteritis,True
5698,cervical incompetence,True
5705,clonorchiasis,True
5708,Colorado tick fever,True
5710,composite lymphoma,True
5713,congenital rubella,True
5716,contagious pleuropneumonia,True
5729,dicrocoeliasis,True
5730,Dictyocaulus infectious disease,True
5731,dipetalonemiasis,True
5734,dourine,False
5736_19380,equine encephalitis,True
5740,Echovirus infectious disease,True
5742,emphysematous cholecystitis,True
5743,encephalitozoonosis,True
5748,enzootic pneumonia of calves,True
5750,ephemeral fever,True
5751,epidemic pleurodynia,True
5752,epidural abscess,True
5755,equine infectious anemia,True
5759,fascioloidiasis,True
5764,follicular dendritic cell sarcoma,True
5765,foot and mouth disease,True
5767,gas gangrene,True
5771,geographic tongue,True
5772,geotrichosis,True
5773,Gerstmann syndrome,True
5774,glanders,False
5778,haemonchiasis,True
5779,"hand, foot and mouth disease",True
5787,hepatic tuberculosis,True
5788,hepatitis E virus infection,True
5789,hepatitis D virus infection,True
5790,hepatitis A virus infection,True
5791,herpangina,False
5792,herpes simplex virus gingivostomatitis,True
5796,HIV enteropathy,True
5798,HIV-associated nephropathy,True
5799,hookworm infectious disease,True
5802,hymenolepiasis,True
5809,infectious ectromelia,True
5811,infectious myxomatosis,True
5817,Kluver-Bucy syndrome,True
5819,laryngeal tuberculosis,True
5826,lipid pneumonia,True
5829,louping ill,True
5830,lumpy skin disease,True
5831,lymph node tuberculosis,True
5832,lymphangitis,True
5837,mandibular cancer,True
5844,chalazion,False
5847,middle lobe syndrome,True
5849,milk allergic reaction,True
5855,molluscum contagiosum,True
5862,multiple chemical sensitivity,True
5865,mushroom workers' lung,True
5866,mycobacterium avium complex disease,True
5868,myelophthisic anemia,True
5870,necatoriasis,True
5873,neuroaspergillosis,True
5874,neuroschistosomiasis,True
5875,Newcastle disease,True
5878,ocular onchocerciasis,True
5879,ocular toxoplasmosis,True
5880,oesophagostomiasis,True
5887,oral tuberculosis,True
5891,ostertagiasis,True
5895,paragonimiasis,True
5900,parotitis,False
5902,peanut allergic reaction,True
5903,pericardial tuberculosis,True
5905,periodic limb movement disorder,True
5908,peste des petits ruminants infectious disease,True
5911,pharyngoconjunctival fever,True
5913,phlebotomus fever,True
5916,placenta accreta,True
5925,pneumonic pasteurellosis,True
5927,polyomavirus infectious disease,True
5928,post-thrombotic syndrome,True
5932,pseudorabies,True
5938,renal tuberculosis,True
5946,rhinosporidiosis,True
5947,rickettsial pneumonia,True
5950,Salmonella gastroenteritis,True
5953,scirrhous adenocarcinoma,True
5954,screw worm infectious disease,True
5957,setariasis,False
5963,sparganosis,True
5967,splenic tuberculosis,True
5969,st. Louis encephalitis,True
5971,staphyloenterotoxemia,True
5978,theileriasis,True
5981,tick paralysis,True
5986,torovirus infectious disease,True
5987,toxascariasis,True
5991,trench fever,True
5998,trombiculiasis,True
5999,tuberculous empyema,True
6000,tuberculous peritonitis,True
6001,urinary schistosomiasis,True
6005,Venezuelan equine encephalitis,True
6008,vestibular neuronitis,True
6010,salmonid viral hemorrhagic septicemia,True
6013,visna disease,True
6018,Wissler syndrome,True
6027,breast synovial sarcoma,True
6033,diffuse intrinsic pontine glioma,True
6034,gastric adenosquamous carcinoma,True
6035,gastric tubular adenocarcinoma,True
6038,indeterminate colitis,True
6046,ovarian serous cystadenocarcinoma,True
6049,papillary lung adenocarcinoma,True
6050,pleomorphic breast carcinoma,True
6051,postweaning multisystemic wasting syndrome,True
6059,nasal cavity squamous cell carcinoma,True
6066,"acinar prostate adenocarcinoma, foamy gland variant",True
6067,acinar prostate mucinous adenocarcinoma,True
6069,ACTH-producing pituitary gland carcinoma,True
6073,adenomatoid odontogenic tumor,True
6075,adrenal gland myelolipoma,True
6077,adrenal medullary hyperplasia,True
6078,AIDS-related primary central nervous system lymphoma,True
6079,ameloblastic carcinoma,True
6081,anal melanoma,True
6090,appendix hyperplastic polyp,True
6091,appendix neuroendocrine tumor G1,True
6092,appendix villous adenoma,True
6093,ascending colon neuroendocrine tumor G1,True
6094,Askin tumor,True
6095,atypical carcinoid tumor,True
6098,atypical lobular breast hyperplasia,True
6103,benign adrenal gland pheochromocytoma,True
6112,bladder inflammatory myofibroblastic tumor,True
6118,breast fibrosis,True
6119,breast mucosa-associated lymphoid tissue lymphoma,True
6121,calcifying fibrous tumor,True
6122,calcifying nested epithelial stromal tumor of the liver,True
6128,central nervous system anaplastic large cell lymphoma,True
6131,cerebellar liponeurocytoma,True
6132,cervical adenoid basal carcinoma,True
6133,cervical adenoid cystic carcinoma,True
6137,cervical intraepithelial neoplasia grade 2/3,True
6138,cervical large cell neuroendocrine carcinoma,True
6139,cervical metaplasia,True
6140,"cervical mucinous adenocarcinoma, minimal deviation variant",True
6141,cervical villoglandular adenocarcinoma,True
6142,cervical small cell carcinoma,True
6144,cervical Wilms tumor,True
6146,chondroid hamartoma,True
6149,clear cell papillary cystadenoma,True
6150,colon Burkitt lymphoma,True
6151,colon dysplasia,True
6152,colon inflammatory polyp,True
6153,colon juvenile polyp,True
6154,colon mucosa-associated lymphoid tissue lymphoma,True
6164_6156,colorectal sessile serrated adenoma/polyp,True
6158,colorectal diffuse large B-cell lymphoma,True
6159,colorectal gastrointestinal stromal tumor,True
6163,colorectal serrated adenocarcinoma,True
6166,columnar cell hyperplasia of the breast,True
6172,conjunctival nevus,True
6173,conjunctival squamous cell carcinoma,True
6174,cortisol-producing adrenal cortex adenoma,True
6178,dedifferentiated solitary fibrous tumor,True
6179,desmoplastic ameloblastoma,True
6183,disseminated peritoneal leiomyomatosis,True
6184,ductal breast carcinoma in situ and lobular carcinoma in situ,True
6185,ductal or ductular proliferation,True
6187,duodenal villous adenoma,True
6191,endometrial clear cell adenocarcinoma,True
6195,endometrial polyp,True
6196,endometrial serous adenocarcinoma,True
6197,endometrial small cell carcinoma,True
6199,endometrial undifferentiated carcinoma,True
6201,ethmoid sinus adenoid cystic carcinoma,True
6207,fallopian tube carcinosarcoma,True
6208,fallopian tube serous adenocarcinoma,True
6211,fibrous hamartoma of infancy,True
6212,flat urothelial hyperplasia,True
6213,floor of mouth mucoepidermoid carcinoma,True
6214,follicular variant thyroid gland papillary carcinoma,True
6216,gallbladder adenoma,True
6217,gallbladder adenosquamous carcinoma,True
6218,gallbladder biliary intraepithelial neoplasia,True
6219,gallbladder small cell neuroendocrine carcinoma,True
6222,gastric choriocarcinoma,True
6223,gastric diffuse large B-cell lymphoma,True
6225,gastric mantle cell lymphoma,True
6226,gastric mucosa-associated lymphoid tissue lymphoma,True
6227_24642,gastric neuroendocrine tumor,True
6228,gastric papillary adenocarcinoma,True
6229,gastric small cell neuroendocrine carcinoma,True
6232,giant cell tumor of soft tissue,True
6234,grade III prostatic intraepithelial neoplasia,True
6237,granulocytic sarcoma,True
6241,hepatic granuloma,True
6246,high grade surface osteosarcoma,True
6250,ileal neuroendocrine tumor G1,True
6255,intimal sarcoma,True
6257,jejunal neuroendocrine tumor G1,True
6260,kidney medullary carcinoma,True
6262,lacrimal gland adenoid cystic carcinoma,True
6264,laryngeal adenoid cystic carcinoma,True
6265,laryngeal small cell carcinoma,True
6267,liver cavernous hemangioma,True
6270,lobular breast carcinoma in situ,True
6271,low grade central osteosarcoma,True
6273,low grade fibromyxoid sarcoma with giant collagen rosettes,True
6275,lung giant cell carcinoma,True
6276,lung inflammatory myofibroblastic tumor,True
6278,lung papilloma,True
6281,lung signet ring cell carcinoma,True
6283,lymphoepithelioma-like lung carcinoma,True
6287,malignancy in giant cell tumor of bone,True
6288,malignant adrenal gland pheochromocytoma,True
6291,malignant jugulotympanic paraganglioma,True
6297,maxillary sinus adenoid cystic carcinoma,True
6301,metanephric adenoma,True
6302,micropapillary serous carcinoma,True
6303,middle ear squamous cell carcinoma,True
6307,mixed somatotroph-lactotroph pituitary gland adenoma,True
6309,mucinous gastric adenocarcinoma,True
6313,nabothian cyst,True
6317,neurothekeoma,True
6321,non-functioning adrenal cortex adenoma,True
6323,non-seminomatous lesion,True
6324,normal breast-like subtype of breast carcinoma,True
6326,ocular melanoma with extraocular extension,True
6330,ossifying fibromyxoid tumor,True
6336,ovarian endometrioid adenocarcinoma with squamous differentiation,True
6339,ovarian microcystic stromal tumor,True
6343,ovarian transitional cell carcinoma,True
6347,pancreatic large cell neuroendocrine carcinoma,True
6348,pancreatic small cell neuroendocrine carcinoma,True
6355,parotid gland acinic cell carcinoma,True
6356,parotid gland adenoid cystic carcinoma,True
6357,parotid gland carcinoma ex pleomorphic adenoma,True
6358,parotid gland squamous cell carcinoma,True
6366,Peutz-Jeghers polyp of the stomach,True
6367,pharyngeal adenoid cystic carcinoma,True
6368,phosphaturic mesenchymal tumor,True
6369,pineal parenchymal tumor of intermediate differentiation,True
6374,placental choriocarcinoma,True
6377,pleural biphasic mesothelioma,True
6378,pleural epithelioid mesothelioma,True
6380,pleural sarcomatoid mesothelioma,True
6381,plexiform ameloblastoma,True
6382,poorly differentiated thyroid gland carcinoma,True
6385,primary intraosseous squamous cell carcinoma,True
6387,primary pulmonary diffuse large B-cell lymphoma,True
6390,prostate small cell carcinoma,True
6391,pyloric gland adenoma,True
6392,rectal hyperplastic polyp,True
6393,rectal traditional serrated adenoma,True
6394,rectal tubular adenoma,True
6395,rectal tubulovillous adenoma,True
6396,rectal villous adenoma,True
6397,renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions,True
6398,retroperitoneal inflammatory myofibroblastic tumor,True
6400,salivary gland acinic cell carcinoma,True
6401,salivary gland adenosquamous carcinoma,True
6404,salivary gland large cell carcinoma,True
6405,salivary gland small cell carcinoma,True
6408,sex hormone-producing adrenal cortex adenoma,True
6409,signet ring cell gastric adenocarcinoma,True
6416,small intestinal Burkitt lymphoma,True
6417,small intestinal diffuse large B-cell lymphoma,True
6418,small intestinal enteropathy-associated T-cell lymphoma,True
6419,small intestinal intraepithelial neoplasia,True
6420,small intestinal mucosa-associated lymphoid tissue lymphoma,True
6421,small intestinal tubular adenoma,True
6422,small intestinal tubulovillous adenoma,True
6426,spinal cord primitive neuroectodermal tumor,True
6429,splenic hodgkin lymphoma,True
6432,stromal predominant kidney Wilms tumor,True
6435,submandibular gland adenocarcinoma,True
6436,submandibular gland adenoid cystic carcinoma,True
6438,synovial chondromatosis,True
6442,tendon sheath fibroma,True
6450,therapy-related myeloid neoplasm,True
6452,thymic sarcomatoid carcinoma,True
6455,thymic undifferentiated carcinoma,True
6462,thyroid gland diffuse large B-cell lymphoma,True
6463,thyroid gland mucoepidermoid carcinoma,True
6464,thyroid gland mucosa-associated lymphoid tissue lymphoma,True
6466,thyroid gland spindle cell tumor with thymus-like differentiation,True
6469,tibial adamantinoma,True
6470,tonsillar squamous cell carcinoma,True
6471,tracheal adenoid cystic carcinoma,True
6475,unclassified renal cell carcinoma,True
6476,undifferentiated gallbladder carcinoma,True
6479,undifferentiated pancreatic carcinoma with osteoclast-like giant cells,True
6480,"undifferentiated pleomorphic sarcoma, inflammatory variant",True
6482,ureter small cell carcinoma,True
6483,urothelial dysplasia,True
6484,usual ductal breast hyperplasia,True
6487,vaginal adenoid cystic carcinoma,True
6488,vaginal carcinosarcoma,True
6489,vaginal melanoma,True
6490,vaginal squamous cell carcinoma,True
6493,Warthin tumor,True
6505,basal ganglia cerebrovascular disease,True
6512,estrogen-receptor positive breast cancer,True
6514,recalcitrant atopic dermatitis,True
6516,sarcopenia,False
6520,Achenbach syndrome,True
6524,acrodermatitis chronica atrophicans,True
6528,bacterial exanthem,True
6531,cholesteatoma of attic,True
6532,cholesteatoma of external ear,True
6534,cholinergic urticaria,True
6537,conjunctival pigmentation,True
6539,diffuse lipomatosis,True
6546,erythematosquamous dermatosis,True
6549,fibroepithelial polyp of the anus,True
6550,fibroepithelial polyp of urethra,True
6551,alopecia mucinosa,True
6553,Fox-Fordyce disease,True
6555,granulomatous dermatitis,True
6556,hand dermatosis,True
6557,hemangioma of subcutaneous tissue,True
6561,eyelid hypopigmentation,True
6569,leg dermatosis,True
6571,lichen nitidus,True
6576,Ludwig's angina,True
6577,maxillary sinus cholesteatoma,True
6578,mediastinal lipomatosis,True
6581,miliaria rubra,True
6586,neurotic excoriation,True
6593,pelvic lipomatosis,True
6595,perinatal jaundice due to hepatocellular damage,True
6601,pityriasis rosea,True
6606,scleredema adultorum,True
6611,skin sarcoidosis,True
6612,steroid lipomatosis,True
6613,stromal corneal pigmentation,True
6616,toxicodendron dermatitis,True
6620,vulva fibroepithelial polyp,True
6621,vulvar inverted follicular keratosis,True
6633,acalculous cholecystitis,True
6635,Acinetobacter infectious disease,True
6638,acute retinal necrosis syndrome,True
6641,afferent loop syndrome,True
6647,anterior cerebral artery infarction,True
6648,anterior compartment syndrome,True
6650,anterior spinal artery syndrome,True
6655,aortic valve prolapse,True
6656,aortitis,False
6660,arthus reaction,True
6671,Bacteroides infectious disease,True
6673,pituitary gland basophil adenoma,True
6677,bile reflux,True
6680,blue nevus,False
6692,central pontine myelinolysis,True
6694,cerebral atherosclerosis,True
6696,cervix erosion,True
6701,chromophobe adenoma,True
6708,Desulfovibrionaceae infectious disease,True
6721,de Quervain disease,True
6728,discitis,False
6735,duodenogastric reflux,True
6737,dystocia,False
6738,eccrine acrospiroma,True
6739,Ehrlich tumor carcinoma,True
6747,enterotoxemia,True
6748,epilepsia partialis continua,True
6754,esophageal diverticulosis,True
6755,euthyroid sick syndrome,True
6758,female genital tuberculosis,True
6759,femoral neuropathy,True
6762,freemartinism,True
6925_6765,Fusobacterium infectious disease,True
6766,gait apraxia,True
6770,giant cell reparative granuloma,True
6777,hairy tongue,True
6778,halo nevus,False
6779,heart aneurysm,True
6780,heartwater disease,True
6781,Helicobacter pylori infectious disease,True
6782,hemometra,False
6783,hemopneumothorax,True
6787,hidrocystoma,True
6789,hyperamylasemia,True
6790,hypercementosis,True
6792,hyperglobulinemic purpura,True
6800,ideomotor apraxia,True
6811_18624,intracranial hypotension,True
6813,intradermal nevus,True
6820,kidney cortex necrosis,True
6824,Krebs 2 carcinoma,True
6826,kwashiorkor,True
6828,nasal cavity and paranasal sinus lethal midline granuloma,True
6829,leukemoid reaction,True
6830,leukoplakia of penis,True
6833,lingual goiter,True
6839,Lutembacher syndrome,True
6841,lymphangioendothelioma,True
6842,lymphangiomyoma,True
6843,macular holes,True
6847,malignant lymphatic vessel tumor,True
6848,marasmus,False
6863,myxosarcoma,True
6864,necrotizing sialometaplasia,True
6866_18326,neonatal myasthenia gravis,True
6868,neurogenic bowel,True
6871,non-gestational choriocarcinoma,True
6880,oral leukoedema,True
6881,orbital cellulitis,True
6886,thyroid gland papillary and follicular carcinoma,True
6887,parametritis,True
6888,paraneoplastic polyneuropathy,True
6889,paraphimosis,True
6892,partial sensory epilepsy,True
6893,Pasteurella hemorrhagic septicemia,True
6894,patellofemoral pain syndrome,True
6897,periapical granuloma,True
6899,pericoronitis,True
6900,perinephritis,True
6903,peroneal nerve paralysis,True
6905,pigmented spindle cell nevus,True
6907,pilar sheath acanthoma,True
6912,pneumatosis cystoides intestinalis,True
6916,postcholecystectomy syndrome,True
6917,posterior cerebral artery infarction,True
6919,potassium deficiency,True
6929,Proteus infectious disease,True
6930,pseudobulbar palsy,True
6931,pulmonary coin lesion,True
6935,pulmonary subvalvular stenosis,True
6937,pulpitis,False
6944,renal aminoaciduria,True
6950,retinal vasculitis,True
6953,Rh isoimmunization,True
6957,root caries,True
6968,shoulder impingement syndrome,True
6970,sialolithiasis,True
6972,silo filler disease,True
6977,spermatocele,True
6979,steatitis,False
6982,subacute thyroiditis,True
6983,subclavian steal syndrome,True
6984,subdural empyema,True
6989,suppurative periapical periodontitis,True
6990,suppurative uveitis,True
6992,syphilitic aortitis,True
6993,systolic heart failure,True
6994,tarsal tunnel syndrome,True
7001,tricuspid valve prolapse (disease),True
7007,Ureaplasma urethritis,True
7009,ureterolithiasis,True
7011,uveoparotid fever,True
7013,vasculogenic impotence,True
7017,vitreous detachment,True
7022,xanthogranulomatous pyelonephritis,True
7025,chancre,False
7028,rotator cuff syndrome,True
7061,"acylase, cobalt-activated",True
7139,Antipyrine metabolism,True
7141,"antiviral state repressor, regulator of",True
7150,arcus senilis,True
7175,"PR interval, variation 1N",True
7189,B-cell growth factor,True
7192,"beta-amino acids, renal transport of",True
7242,butyrylesterase 1,True
7317,chlorpropamide-alcohol flushing,True
7323,Chondronectin,True
7331,cleft chin,False
7413,Cyprus facial-neuromusculoskeletal syndrome,True
7456,"diarrhea, glucose-stimulated secretory, with common variable immunodeficiency",True
7466,"DNA, satellite, 3",True
7467,"DNA, low-repetitive sequences of",True
7532,Electroencephalographic peculiarity: occipital slow beta waves,True
7543,"enolase, sperm specific",True
7578_7579,esterase,False
7580,"esterase ES-2, regulator for",True
7629,fragile site 10Q23,True
7638,fucosidase regulator,True
7645,gastric sneezing,True
7649,gastric juice peptides,True
7674,glucose-6-phosphate dehydrogenase-like,True
7675,"glutamic acid decarboxylase, brain, membrane form",True
7676,glutathione transferase activity toward trans-stilbene oxide,True
7684,"granulomatous disease, chronic, autosomal dominant type",True
7689,guanylate kinase 3,True
7692,hairy ears,False
7697,hand clasping pattern,True
7730,histiocytic dermatoarthritis,True
7736,"HPA 1 Recognition polymorphism, beta-globin-related",True
7741,congenital hydronephrosis,True
7742,5-hydroxytryptamine oxygenase regulator,True
7807,hypoxanthine guanine phosphoribosyltransferase suppressor,True
7815,immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist,True
7821,immunoglobulin switch sequences,True
7822,"incisors, long upper central",True
7823,"insulin receptors, familial increase 1N",True
7832,interferon antiviral depressor,True
7910,lipoprotein types--Lt system,True
7911,"lipoprotein, variant of beta",True
7913,"low density lipoprotein, variation in molecular weight of",True
7942,Mammastatin,True
7968,melanoma tumor antigen Gp90,True
7980,metachromasia of fibroblasts,True
8010,antigen defined by monoclonal antibody Aj9,True
8011,antigen defined by monoclonal antibody T87,True
8068,"navicular bone, accessory",True
8074,"nerve growth factor, alpha subunit",True
8085,"neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance",True
8091,abnormal neutrophil chemotactic response,True
8110,ocular dominance,True
8230,"peroxidase, salivary",True
8238,"phosphatase, acid, of tissues",True
8239,phosphoglucomutase 4,True
8241,phosphoglycoprotein 1,True
8252,platelet adenylate cyclase activity,True
8256,platelet membrane fluidity,True
8317,proteolytic capacity of plasma,True
8330,pseudomonilethrix,True
8398,"salivary substance, Clostridium botulinum type",True
8427,"sister chromatid exchange, frequency of",True
8432,"ketone compounds, ability to smell",True
8435,"Somatomedin, embryonic",True
8446,sperm protamine P4,True
8505,"surface antigen, glycoprotein 75",True
8507,"surface polypeptides, anonymous",True
8528,"tear protein, anodal",True
8529,"T-cell Subgroups, non-HLA-linked",True
8536,temperature-sensitive lethal mutation,True
8548,theophylline Biotransformation,True
8565,familial thyroglossal duct cyst,True
8614,suppressor of tumorigenicity 3,True
8616,twinning due to superfetation,True
8639,vascular helix of umbilical cord,True
8643,"veins, pattern of, on anterior thorax",True
8658,virus Rd114 RNA Complementarity,True
8718,Morvan syndrome,True
8888,Williams-Campbell syndrome,True
8902,camptodactyly-ichthyosis syndrome,True
8949,"cerebral malformation, seizures, hypertrichosis, and overlapping fingers",True
9004,combined inflammatory and immunologic defect,True
9171,"endothelial dystrophy, congenital hereditary, with nail hypoplasia",True
9193,"epithelial squamous dysplasia, keratinizing desquamative, of urinary tract",True
9250,fructose utilization,True
9432,"hypopituitarism, congenital, with central diabetes insipidus",True
9442,ichthyosis congenita with biliary atresia,True
9467,natal teeth-intestinal pseudoobstruction-patent ductus syndrome,True
9487,keratoconus and congenital hip dysplasia,True
9500,"kuru, susceptibility to",True
9535,"lymphedema, congenital recessive",True
9553,Plasmodium falciparum blood infection level,True
9555,malocclusion and short stature,True
9750,"neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive",True
9827,"pachyonychia congenita, autosomal recessive",True
9829,"pallidal degeneration, progressive, with retinitis pigmentosa",True
9840,Partington-Anderson syndrome,True
9939,pulmonic stenosis and congenital nephrosis,True
10000,"rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction",True
10048,spastic paraplegia with myoclonic epilepsy,True
10112,"thalamic degeneration, symmetric infantile",True
10113,thalidomide susceptibility,True
10223,"ichthyosis, X-linked, without steroid sulfatase deficiency",True
10255,"diabetes mellitus, insulin-dependent, X-linked, susceptibility to",True
10262,"hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses",True
10273,"lymphoma, Hodgkin, X-linked pseudoautosomal",True
10276,"radioulnar synostosis, radial ray abnormalities, and severe malformations in the male",True
10304_11314,"Graves disease, susceptibility to",True
10312,"radial ray deficiency, X-linked",True
10331_11817_12009_12010_12147_12585_12628_12788_13765,"coronary heart disease, susceptibility to",True
10436,chromosome Xq28 duplication syndrome,True
10439,"cardiomyopathy, fatal fetal, due to myocardial calcification",True
10536,"tubulin, beta",True
10597,glutamyl ribose-5-phosphate storage disease,True
10630,imprinting gene related to retinoblastoma,True
10692,nuclear ribonucleic acid,True
10705,ouabain resistance,True
10739,Taqi polymorphism,True
10760,XH antigen,False
10762,"lymphoma, Hodgkin, Y-linked pseudoautosomal",True
10770,"ubiquitin-activating enzyme, Y-linked",True
10776,"hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial",True
10786,chronic diarrhea with villous atrophy,True
10793,"nephropathy, chronic tubulointerstitial",True
10937,isoproterenol-mediated vasodilatation,True
10944,mitochondrial import-stimulating factor,True
10960,protocadherin 3,True
10990,Cd4/CD8 T-cell ratio,True
10994,"micromelic dwarfism, Fryns type",True
11000,guanylate cyclase 2E,True
11029,myeloid tumor suppressor,True
11030,"epithelial basolateral chloride conductance regulator, rabbit, homolog of",True
11100,"microcephaly, retinitis pigmentosa, and sutural cataract",True
11111,horns in sheep,True
11126,acute insulin response,True
11141,folate level in erythrocytes,True
11161,sperm-specific antigen 1,True
11210,"mitochondrial intermembrane space protein Tim12, yeast, homolog of",True
11212,"sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth",True
11228,"creases, infra-auricular cutaneous, with tall stature and advanced bone age",True
11241,pseudoacromegaly with severe insulin resistance,True
11247,jejunal atresia with renal adysplasia,True
11250,"microcephaly, macrotia, and intellectual disability",True
11251,"facial dysmorphism, cleft palate, hearing loss, and camptodactyly",True
11253,craniomicromelic syndrome,True
11254,"brachydactyly, intraventricular septal defect, and deafness",True
11256,"emphysema, congenital, with deafness, penoscrotal web, and intellectual disability",True
11260,"pancreatic lymphoma, familial",True
11267,"intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration",True
11282,tumor suppressor gene on chromosome 11,True
11288,"spastic paraplegia, optic atrophy, microcephaly, and 10Y sex reversal",True
11289,apraxia of eyelid opening,True
11290,"dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability",True
11306,"muscular dystrophy, congenital, with cerebellar atrophy",True
11310,"long chain fatty acids, defect in transport of",True
11312,"thyroid carcinoma, nonmedullary, with or without cell oxyphilia",True
11315,Osebold skeletal dysplasia/osteolysis syndrome,True
11316,"osteosclerotic chondrodysplasia, lethal, with intracellular inclusions",True
11317,"microcephaly, severe, with skeletal anomalies including posterior rib-Gap defects",True
11318,Tonoki syndrome,True
11319,activator of liver function 1,True
11321,expansile bone lesions,True
11322,"Oroacral syndrome, Verloes-Koulischer type",True
11331,congenital chylothorax,True
11333,light fixation seizure syndrome,True
11341,"microcephaly, facial abnormalities, micromelia, and intellectual disability",True
11343,"follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts",True
11344,"parotitis, juvenile recurrent",True
11345,"facial dysmorphism, selective tooth agenesis, and choroid calcification",True
11347,craniosynostosis with ectopia lentis,True
11349,"osteoma of cranial vault, familial",True
11353,"atrial septal defect, secundum, with various cardiac and Noncardiac defects",True
11354,situs inversus totalis with cystic dysplasia of kidneys and pancreas,True
11356,"exostosis, Dupuytren subungual",True
11357,eccrine syringofibroadenomatosis with eyelid abnormalities,True
11358,"blue nevi, familial multiple",True
11367,"Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia",True
11368,papillary thyroid Microcarcinoma,True
11371,"hydroa vacciniforme, familial",True
11372,microcephaly with simplified gyral pattern,True
11373,"urinary tract infections, recurrent, susceptibility to",True
11384_11440_11815_12109_12458_12459_12587_12599,"hypertension, essential, susceptibility to",True
11404,Caronte,False
11406,"cholesteatoma, congenital",True
11409,"hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection",True
11410,"Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly",True
11419,camera-Marugo-Cohen syndrome,True
11427,"Ascaris lumbricoides infection, susceptibility to",True
11433,"anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome",True
11446,"myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders",True
11453,ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia,True
11455,"lissencephaly, familial, with cleft palate and cerebellar hypoplasia",True
11463,"polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive",True
11465,infundibulocystic basal cell carcinoma,True
11478,"growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia",True
11483,polycystic bone disease,True
11492,"mandibulofacial dysostosis syndrome, Bauru type",True
11494,"hyaluronan metabolism, defect 1N",True
11507,"diabetes mellitus, congenital autoimmune",True
11509,"low density lipoprotein cholesterol, mild elevation of",True
11511,"clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia",True
11516,early response to neural induction gene,True
11524,Dianzani autoimmune lymphoproliferative disease,True
11550,"fibromatosis, gingival, with hypertrichosis and intellectual disability",True
11554,"deafness, nonsyndromic, modifier 1",True
11557,"radiation sensitivity/chromosome instability syndrome, autosomal dominant",True
11574,"tetralogy of fallot syndrome, autosomal recessive",True
11580,cerebellar ataxia and hypergonadotropic hypogonadism,True
11590,anisomastia,True
11594,"ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis",True
11606,baby rattle pelvis dysplasia,True
11607_12898_13020_13639,"narcolepsy, susceptibility to",True
11611,"short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting",True
11617,"arthropathy, erosive",True
11618,liver fibrocystic disease and polydactyly,True
11619,crumpled helices and small mouth,True
11620,"metaphyseal dysplasia, Braun-Tinschert type",True
11622,"nephrolithiasis, uric acid, susceptibility to",True
11626,"acromegaloid features, overgrowth, cleft palate, and hernia",True
11641,"baculum, congenital absence of",True
11642,carnitine acetyltransferase deficiency,True
11644,pars planitis,True
11648,radiation-induced meningioma,True
11677,Megarbane syndrome,True
11685,"polysubstance abuse, susceptibility to",True
11693,"glaucoma, normal tension, susceptibility to",True
11695_11696,"melanoma, uveal, susceptibility to",True
11716,acute hemorrhagic leukoencephalitis,True
11723,hemifacial myohyperplasia,True
11726,peripheral arterial occlusive disease 1,True
11727,"anorexia nervosa, susceptibility to, 1",True
11729,"stroke, susceptibility to, 1",True
11745,"duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery",True
11763,T-box 24,False
11768,myasthenia gravis with thymus hyperplasia,True
11779,"laryngeal atresia, encephalocele, and limb deformities",True
11796,"epilepsy, partial, with pericentral spikes",True
11825,"streptococcus, group A, severity of infection by",True
11848,headache associated with sexual activity,True
11854,"secretory diarrhea, myopathy, and deafness",True
11856,spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome,True
11863,prostate cancer aggressiveness quantitative trait locus on chromosome 19,True
11883,Curly hair - acral keratoderma - caries syndrome,True
11884,hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome,True
11931,"ovarian cancer, susceptibility to, 1",True
11958,"bile and pancreatic ducts, complete absence of",True
11967,"heterotopia, periventricular, associated with chromosome 5P anomalies",True
11978,CoQ-responsive OXPHOS deficiency,True
11993,aspirin resistance,True
12007,"scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities",True
12038,speech-sound disorder,True
12039_12058,"myocardial infarction, susceptibility to",True
12047,"alopecia universalis congenita, 10Y gonadal dysgenesis, and laryngomalacia",True
12057,"legionnaire disease, susceptibility to",True
12068,"brachial palsy, familial congenital",True
12131,"metaphyseal undermodeling, spondylar dysplasia, and overgrowth",True
12133,"lateral semicircular canal malformation, familial, with external and middle ear abnormalities",True
12135_12492_12493_12636_12641_13022_14079,"restless legs syndrome, susceptibility to",True
12159_12942_12955_13631,lung cancer susceptibility,True
12202,"malaria, mild, susceptibility to",True
12207,"umbilicus, familial flat",True
12223,"hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate",True
12243,"B-cell immunodeficiency, distal limb anomalies, and urogenital malformations",True
12255,chromosome 18 pericentric inversion,True
12257,Cerebrorenodigital syndrome,True
12259,colloid cysts of third ventricle,True
12283,"cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss",True
12284,"nephropathy, progressive, with deafness",True
12288,iridogoniodysgenesis and skeletal anomalies,True
12298,"omphalocele, diaphragmatic hernia, and radial ray defects",True
12317,"visceral neuropathy, familial, autosomal dominant",True
12325,Nguyen syndrome,True
12351_17543_17544_17545,zygodactyly,True
12385,"metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands",True
12386,trichoscyphodysplasia,True
12390,"arthrogryposis multiplex with deafness, inguinal hernias, and early death",True
12402,"opioid dependence, susceptibility to, 1",True
12416,Devriendt syndrome,True
12428,kyphoscoliosis 1,True
12482,"West Nile virus, susceptibility to",True
12499,"Buruli ulcer, susceptibility to",True
12501,mutagen sensitivity,True
12550,iris pattern,True
12564,Polyosteolysis-hyperostosis syndrome,True
12572,Sakoda complex,True
12660_12661_21012,susceptibility to visceral leishmaniasis,True
12663,Plasmodium falciparum fever episodes quantitative trait locus 1,True
12711,"peripapillary atrophy, beta type",True
12722,Dauwerse-Peters syndrome,True
12749,"mesomelic dysplasia, camera type",True
12842,CMM7,False
12870,chromosome 2q31.2 deletion syndrome,True
12913,"Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome",True
13004,"hypotonia, seizures, and precocious puberty",True
13009,Megarbane-Jalkh syndrome,True
13029,cerebellar ataxia type 9,True
13031,"chromosome 5Q14.3 deletion syndrome, distal",True
13138,"vertigo, benign recurrent, 2",True
13309,chromosome 2p12-p11.2 deletion syndrome,True
13317,torsade-de-pointes syndrome with short coupling interval,True
13318,early repolarization associated with ventricular fibrillation,True
13335,"tuberculin skin test reactivity, absence of",True
13374,supernumerary der(22)t(8;22) syndrome,True
13462,fucosyltransferase 6 deficiency,True
13562,"aspergillosis, susceptibility to",True
13586,Chitotriosidase deficiency,True
13713,"dengue virus, susceptibility to",True
13732,"glucocorticoid therapy, response to",True
13733,"accelerated tumor formation, susceptibility to",True
13799,"efavirenz, poor metabolism of",True
13814,"podoconiosis, susceptibility to",True
13846,"peripartum cardiomyopathy, susceptibility to",True
13909,"human herpesvirus 8, susceptibility to",True
14053,"stomatin-like protein-2, hyperphosphorylation of",True
14151,"pulmonary hypertension, neonatal, susceptibility to",True
14241,"leukemia, acute lymphoblastic, susceptibility to, 3",True
14251,"melioidosis, susceptibility to",True
14362,"chromosome 16 inversion, 0.45-Mb",True
14415,"kallikrein, decreased urinary activity of",True
14519,"chronic mountain sickness, susceptibility to",True
14616,Skint1-like pseudogene,True
14763,Bombay phenotype,True
15029,reticular perineurioma,True
15030,sclerosing perineurioma,True
15042,primary plasmacytoma of the bone,True
15043,extramedullary soft tissue plasmacytoma,True
15049,solitary necrotic nodule of the liver,True
15050,esophageal duplication cyst,True
15051,tubular duplication of the esophagus,True
15060,mosaic trisomy 3,True
15086,cloverleaf skull-asphyxiating thoracic dysplasia syndrome,True
15095,Peters anomaly-cataract syndrome,True
15097,aortic valve dysplasia,True
15101,Marin-Amat syndrome,True
15102,non-secreting chemodectoma,True
15103,pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome,True
15109,congenital anomaly of the mitral subvalvular apparatus,True
15164,acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent,True
15169,chronic diarrhea due to glucoamylase deficiency,True
15175_17227_17228,autoimmune pancreatitis,True
15176,undetermined colitis,True
15191,myopathic intestinal pseudoobstruction,True
15192,unclassified intestinal pseudoobstruction,True
15200,anisakiasis,True
15206,short stature-heart defect-craniofacial anomalies syndrome,True
15232,radial deficiency-tibial hypoplasia syndrome,True
15235,arachnodactyly-intellectual disability-dysmorphism syndrome,True
15255,blepharophimosis-radioulnar synostosis syndrome,True
15256,blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome,True
15257,sino-auricular heart block,True
15260,diphyllobothriasis,True
15271,idiopathic camptocormia,True
15289,infectious epithelial keratitis,True
15292,endotheliitis,True
15295,intractable diarrhea-choanal atresia-eye anomalies syndrome,True
15296,cardiac anomalies-heterotaxy syndrome,True
15298,pellucid marginal degeneration,True
15302,nodular cutaneous amyloidosis,True
15303,macular amyloidosis,True
15306,Lemierre syndrome,True
15308,laminopathy type Decaudain-Vigouroux,True
15311,autism-facial port-wine stain syndrome,True
15314,primary laryngeal lymphangioma,True
15315,neonatal brainstem dysfunction,True
15316,congenital laryngeal palsy,True
15343,secondary acute transverse myelitis,True
15344,idiopathic acute transverse myelitis,True
15349,progressive cavitating leukoencephalopathy,True
15351,neuropathy with hearing impairment,True
15379,cervical dermoid cyst,True
15381,commissural lip fistula,True
15382,lower lip fistula,True
15383,cervicofacial fibrochondroma,True
15384,digestive duplication cyst of the tongue,True
15387,nasolacrimal duct cyst,True
15390,proboscis lateralis,True
15391,nasopharyngeal teratoma,True
15392,nasal glial heterotopia,True
15393,nasal ganglioglioma,True
15395,congenital subglottic stenosis,True
15396,congenital laryngeal cyst,True
15399,glossopalatine ankylosis,True
15400,frontonasal arteriovenous malformation,True
15401,maxillary arteriovenous malformation,True
15402,mandibular arteriovenous malformation,True
15408,diffuse lymphatic malformation,True
15409,isolated congenital syngnathia,True
15410,nasal dorsum fistula/cyst,True
15413,median cleft of the upper lip and maxilla,True
15414,paramedian nasal cleft,True
15419,midline cervical cleft,True
15429_22737,choroideremia-hypopituitarism,True
15433,ring chromosome 17,True
15434,ring chromosome 18,True
15435,ring chromosome 19,True
15436,ring chromosome 20,True
15457,corpus callosum agenesis-double urinary collecting system syndrome,True
15471,benign focal seizures of adolescence,True
15477,pinnae fistula or cyst,True
15480,coloboma of superior eyelid,True
15481,coloboma of inferior eyelid,True
15493,"lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy",True
15519,congenital or early infantile CACH syndrome,True
15520,late infantile CACH syndrome,True
15521,juvenile or adult CACH syndrome,True
15528,congenital epulis,True
15537,necrobiotic xanthogranuloma,True
15538,indeterminate dendritic cell tumor,True
15543,hemophagocytic syndrome associated with an infection,True
15544,acquired hemophagocytic lymphohistiocytosis associated with malignant disease,True
15557,Smouldering systemic mastocytosis,True
15558,isolated bone marrow mastocytosis,True
15559,lymphoadenopathic mastocytosis with eosinophilia,True
15568,isolated congenital nasal pyriform aperture stenosis,True
15569,congenital nasal pyriform aperture stenosis with holoprosencephaly,True
15570,isolated congenital auditory ossicle malformation,True
15585,cryptogenic late-onset epileptic spasms,True
15593,limbic encephalitis with nCMAgs antibodies,True
15595,posttransplant acute limbic encephalitis,True
15596,non-herpetic acute limbic encephalitis,True
15608,acute myeloid leukemia and myelodysplastic syndromes related to radiation,True
15622,wound myiasis,True
15623,cavitary myiasis,True
15632,FASTKD2-related infantile mitochondrial encephalomyopathy,True
15636,dirofilariasis,True
15638,benign partial epilepsy of infancy with complex partial seizures,True
15639,benign partial epilepsy with secondarily generalized seizures in infancy,True
15640,benign infantile seizures associated with mild gastroenteritis,True
15641,benign infantile focal epilepsy with midline spikes and wave during sleep,True
15644,audiogenic seizures,True
15645,eating seizures,True
15646,orgasm-induced seizures,True
15647,thinking seizures,True
15648,startle epilepsy,True
15649,micturation-induced seizures,True
15664,idiopathic pulmonary artery dilatation,True
15666,familial idiopathic dilatation of the right atrium (disease),True
15675,distomatosis,True
15678,"dysplasia of head of femur, Meyer type",True
15692,refractory anemia with excess blasts in transformation,True
15694,malignant melanoma of the mucosa,True
15702,T-B+ severe combined immunodeficiency due to CD45 deficiency,True
15718,mosaic trisomy 12,True
15730,mosaic trisomy 17,True
15734,rectal duplication,True
15742,periventricular leukomalacia,True
15743,idiopathic bilateral vestibulopathy,True
15744,distal trisomy 19q,True
15750,amelogenesis imperfecta-gingival hyperplasia syndrome,True
15755,myopathy with hexagonally cross-linked tubular arrays,True
15763,mosaic trisomy 2,True
15771,mosaic trisomy 7,True
15795,undifferentiated embryonal sarcoma of the liver,True
15801,hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation,True
15807,myopic macular degeneration,True
15813,primary cutaneous marginal zone B-cell lymphoma,True
15814,primary cutaneous follicle center lymphoma,True
15832,true unicornuate uterus,True
15833,pseudounicornuate uterus,True
15835,Bicervical bicornuate uterus and blind hemivagina,True
15836,Bicervical bicornuate uterus with patent cervix and vagina,True
15838,cordiform uterus,True
15839_15840_15841,septate uterus,True
15843,uterine hypoplasia,True
15844,agenesis and aplasia of uterine body,True
15845,uterine cervical aplasia and agenesis,True
15849,longitudinal vaginal septum,True
15850,transverse vaginal septum,True
15872,giant adenofibroma of the breast,True
15873,Paget disease of the nipple,True
15874,benign ductal tumor of breast,True
15907,epimetaphyseal skeletal dysplasia,True
15967,monogenic diabetes,True
15994,muscular dystrophy-white matter spongiosis syndrome,True
15997,ectopia lentis-chorioretinal dystrophy-myopia syndrome,True
16000,familial isolated hypoparathyroidism due to impaired PTH secretion,True
16024,shoulder and thorax deformity-congenital heart disease syndrome,True
16026,infant epilepsy with migrant focal crisis,True
16029,esthesioneuroblastoma,True
16038,calcified aponeurotic fibroma,True
16040,harlequin syndrome,True
16041,congenital microgastria,True
16048,"isolated autosomal dominant hypomagnesemia, Glaudemans type",True
16049,"congenital myopathy, Paradas type",True
16052,atypical autism,True
16053,isolated cerebellar vermis hypoplasia,True
16062,median cleft lip/mandibule,True
16077,congenital aortopulmonary window,True
16078,congenital systemic arteriovenous fistula,True
16081,coronary arterial fistulas,True
16092,serous or mucinous cystadenoma of childhood,True
16100,rippling muscle disease with myasthenia gravis,True
16101,neurolymphomatosis,True
16103,isolated asymptomatic elevation of creatine phosphokinase,True
16161,cerebral gigantism-jaw cysts syndrome,True
16183,qualitative or quantitative defects of protein glycosyltransferase-like,True
16204,idiopathic copper-associated cirrhosis,True
16207,phacoanaphylactic uveitis,True
16208,solitary rectal ulcer syndrome,True
16209,benign familial nocturnal alternating hemiplegia of childhood,True
16212,cyclosporosis,True
16213,leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome,True
16251,salivary gland type cancer of the breast,True
16259,carcinosarcoma of the corpus uteri,True
16260,uterine corpus rhabdomyosarcoma,True
16276,high-grade neuroendocrine carcinoma of the cervix uteri,True
16282,rhabdomyosarcoma of the cervix uteri,True
16283,leiomyosarcoma of the cervix uteri,True
16284,primitive neuroectodermal tumor of the cervix uteri,True
16287,adenoid basal carcinoma of the cervix uteri,True
16289,malignant germ cell tumor of cervix uteri,True
16302,isolated congenitally uncorrected transposition of the great arteries,True
16303,congenitally uncorrected transposition of the great arteries with cardiac malformation,True
16306_16307_16308_16309_16310,Niemann-Pick disease type C,True
16311,Bockenheimer syndrome,True
16312,5-fluorouracil poisoning,True
16317,limbic encephalitis with NMDA receptor antibodies,True
16319,congenital insensitivity to pain with hyperhidrosis,True
16321,pulmonary interstitial glycogenosis,True
16323,chronic respiratory distress with surfactant metabolism deficiency,True
16332,hypertrophic cardiomyopathy due to intensive athletic training,True
16350,hydrocephalus-blue sclerae-nephropathy syndrome,True
16351,anti-HLA hyperimmunization,True
16360,marcothrombocytopenia with mitral valve insufficiency,True
16371,combined hyperactive dysfunction syndrome of the cranial nerves,True
16373,isolated facial myokymia,True
16376,confetti-like macular atrophy,True
16421,toxic oil syndrome,True
16424,progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome,True
16429,Marburg acute multiple sclerosis,True
16437,late-onset focal dermal elastosis,True
16438,linear focal dermal elastosis,True
16440,elastofibroma dorsi,True
16441,acquired pseudoxanthoma elasticum,True
16443,papular elastorrhexis,True
16444,primary anetoderma,True
16446,acquired cutis laxa,True
16447,white fibrous papulosis of the neck,True
16448,pseudoxanthoma elasticum-like papillary dermal elastolysis,True
16449,mid-dermal elastolysis,True
16454,severe early-onset axonal neuropathy due to NEFL deficiency,True
16455,virus-associated trichodysplasia spinulosa,True
16475,Beckwith-Wiedemann syndrome due to imprinting defect of 11p15,True
16476,Beckwith-Wiedemann syndrome due to CDKN1C mutation,True
16477,Beckwith-Wiedemann syndrome due to 11p15 microdeletion,True
16478,Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion,True
16503,congenital erosive and vesicular dermatosis,True
16510,epibulbar lipodermoid-preauricular appendage-polythelia syndrome,True
16522,Kousseff syndrome,True
16530,laryngocele,True
16531,digestive duplication,True
16533,apolipoprotein A-II amyloidosis,True
16534,infundibulo-neurohypophysitis,True
16539,atypical hypotonia-cystinuria syndrome,True
16544,IgG4-related mesenteritis,True
16547,Beckwith-Wiedemann syndrome due to NSD1 mutation,True
16548,megacystis-megaureter syndrome,True
16549,"primary megaureter, adult-onset form",True
16552,"congenital primary megaureter, nonrefluxing and unobstructed form",True
16554,neonatal iodine exposure,True
16559,glaucoma secondary to spherophakia/ectopia lentis and megalocornea,True
16560,ptosis-syndactyly-learning difficulties syndrome,True
16570,primary pulmonary lymphoma,True
16571,macrocephaly-short stature-paraplegia syndrome,True
16572,central bilateral macrogyria,True
16583,familial intestinal malrotation-facial anomalies syndrome,True
16598,autosomal recessive secondary polycythemia not associated with VHL gene,True
16606,prenatal benign hypophosphatasia,True
16609,inflammatory myopathy with abundant macrophages,True
16610,idiopathic eosinophilic myositis,True
16615,oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies,True
16616,oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies,True
16617,rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies,True
16618,rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies,True
16622,Melhem-Fahl syndrome,True
16626,hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency,True
16630,isolated delta-storage pool disease,True
16644,logopenic progressive aphasia,True
16654,ring chromosome 5,True
16656,7q31 microdeletion syndrome,True
16661,infantile onset panniculitis with uveitis and systemic granulomatosis,True
16662,idiopathic recurrent pericarditis,True
16664,drug-induced vasculitis,True
16665,unclassified vasculitis,True
16666,unexplained long-lasting fever/inflammatory syndrome,True
16668,sickle cell-beta-thalassemia disease syndrome,True
16669,sickle cell-hemoglobin c disease syndrome,True
16670,sickle cell-hemoglobin d disease syndrome,True
16671,sickle cell-hemoglobin E disease syndrome,True
16672,hereditary persistence of fetal hemoglobin-sickle cell disease syndrome,True
16683,gliomatosis cerebri,True
16709,anaplastic/large cell medulloblastoma,True
16712,classic medulloblastoma,True
16725,pineal parenchymal tumor of intermediate differenciation,True
16727,extraventricular neurocytoma,True
16731_22963_22965,desmoplastic infantile astrocytoma/ganglioglioma,True
16734,anaplastic ganglioglioma,True
16735,papillary glioneuronal tumor,True
16736,rosette-forming glioneuronal tumor of fourth ventricule,True
16745,diffuse leptomeningeal melanocytosis,True
16746,meningeal melanocytoma,True
16751,malignant perineurioma,True
16757,malignant triton tumor,True
16762,microcornea-corectopia-macular hypoplasia syndrome,True
16771_16772_16773,annular atrophic lichen planus,True
16774,lichen planus pigmentosus,True
16787,epithelioid trophoblastic tumor,True
16806,maternally-inherited mitochondrial dystonia,True
16811,renal tubulopathy-encephalopathy-liver failure syndrome,True
16818,Mikati-Najjar-Sahli syndrome,True
16821,shoulder and girdle defects-familial intellectual disability syndrome,True
16827,myopathy-growth delay-intellectual disability-hypospadias syndrome,True
16835,14q11.2 microduplication syndrome,True
16850,atypical Norrie disease due to monosomy Xp11.3,True
16857,blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome,True
16858_16859,blepharophimosis-epicanthus inversus-ptosis,True
16861,Alagille syndrome due to 20p12 microdeletion,True
16863,Okihiro syndrome due to 20q13 microdeletion,True
16864,Okihiro syndrome due to a point mutation,True
16984,nevus of Ota,True
16986,congenital smooth muscle hamartoma,True
16989,Fuchs heterochromic iridocyclitis,True
16990,acquired prothrombin deficiency,True
16993,generalized peeling skin syndrome type C,True
17018,isolated pulmonary capillaritis,True
17039,drug or radiation exposure-related interstitial lung disease,True
17041,osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome,True
17044,adult familial nephronophthisis-spastic quadriparesia syndrome,True
17045,neuroectodermal-endocrine syndrome,True
17047,infantile axonal neuropathy,True
17050,intraocular medulloepithelioma,True
17063,total spina bifida aperta,True
17064,thoracolumbosacral spina bifida aperta,True
17065,lumbosacral spina bifida aperta,True
17067,cervicothoracic spina bifida aperta,True
17068,upper thoracic spina bifida aperta,True
17070,total spina bifida cystica,True
17071,thoracolumbosacral spina bifida cystica,True
17072,lumbosacral spina bifida cystica,True
17073,cervical spina bifida cystica,True
17074,cervicothoracic spina bifida cystica,True
17075,upper thoracic spina bifida cystica,True
17081,parietal encephalocele,True
17082,basal encephalocele,True
17084,leptomyelolipoma,True
17087,neurenteric cyst,True
17088,isolated amyelia,True
17089,isolated megalencephaly,True
17105,glioependymal/ependymal cyst,True
17107_17108_17109,isolated cerebellar vermis agenesis,True
17112_17113,isolated hemispheric cerebellar hypoplasia,True
17116,congenital communicating hydrocephalus,True
17124,noma,False
17126,oculo-skeletal-renal syndrome,True
17153,pulmonary arterial hypertension associated with HIV infection,True
17154,pulmonary arterial hypertension associated with portal hypertension,True
17155,pulmonary arterial hypertension associated with schistosomiasis,True
17156,pulmonary arterial hypertension associated with chronic hemolytic anemia,True
17157,pulmonary hypertension owing to lung disease and/or hypoxia,True
17158,pulmonary hypertension with unclear multifactorial mechanism,True
17164,hemolytic disease of the newborn with Kell alloimmunization,True
17170,idiopathic recurrent stupor,True
17179,limbic encephalitis with caspr2 antibodies,True
17188,diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency,True
17191,sporadic pheochromocytoma,True
17192,sporadic secreting paraganglioma,True
17204,toxic maculopathy due to antimalarial drugs,True
17205,primary oculocerebral lymphoma,True
17209,infectious posterior uveitis,True
17211,infectious panuveitis,True
17212,paraneoplastic uveitis,True
17229,distal monosomy 12p,True
17231,erythropoietic uroporphyria associated with myeloid malignancy,True
17235,familial omphalocele syndrome with facial dysmorphism,True
17237,hereditary sensorimotor neuropathy with hyperelastic skin,True
17238,hemoglobinopathy Toms River,True
17239,familial progressive hyper- and hypopigmentation,True
17245,intralobar congenital pulmonary sequestration,True
17246,extralobar congenital pulmonary sequestration,True
17247,communicating congenital bronchopulmonary-foregut malformation,True
17289,fetal lung interstitial tumor,True
17292,well-differentiated fetal adenocarcinoma of the lung,True
17294,"glycerol kinase deficiency, infantile form",True
17295,"glycerol kinase deficiency, juvenile form",True
17296,"glycerol kinase deficiency, adult form",True
17297,"chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids {xref=""Orphanet:284448""}",True
17299,acute annular outer retinopathy,True
17326,infective dermatitis associated with HTLV-1,True
17328,non-central nervous system-localized embryonal carcinoma,True
17330,malignancy diagnosed during pregnancy,True
17331,Pilotto syndrome,True
17332,pyoderma gangrenosum-acne-suppurative hidradenitis syndrome,True
17334,12q15q21.1 microdeletion syndrome,True
17336,fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency,True
17348,lymphoepithelial-like carcinoma,True
17349,myopericytoma,True
17353,neonatal glycine encephalopathy,True
17354,infantile glycine encephalopathy,True
17357,transient hyperammonemia of the newborn,True
17382,familial clubfoot due to 5q31 microdeletion,True
17383,familial clubfoot due to PITX1 point mutation,True
17384,acute generalized exanthematous pustulosis,True
17388,celiac trunk compression syndrome,True
17389,tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria,True
17395,fixed pigmented erythema,True
17399,"frontotemporal dementia, right temporal atrophy variant",True
17412,2q31.1 microduplication syndrome,True
17413,Reunion island Larsen syndrome,True
17418,chronic intestinal failure,True
17426,postaxial polydactyly of fingers,True
17440_17482_17483_17485,humeral agenesis/hypoplasia,True
17441,congenital absence of upper arm and forearm with hand present,True
17454,triphalangeal thumb-polysyndactyly syndrome,True
17455_17521_17522,hyperphalangy,True
17456_17535_17536_17538,central polydactyly of fingers,True
17462,congenital pseudoarthrosis of the tibia,True
17463,congenital pseudoarthrosis of the femur,True
17464,congenital pseudoarthrosis of the fibula,True
17465,congenital pseudoarthrosis of the radius,True
17466,congenital pseudoarthrosis of the ulna,True
17467,tibio-fibular synostosis,True
17476_17477,limb hypertrophy,True
17484,"femoral agenesis/hypoplasia, unilateral",True
17488,"ulnar hemimelia, bilateral",True
17489,"ulnar hemimelia, unilateral",True
17496,"congenital absence of thigh and lower leg with foot present, unilateral",True
17497,"congenital absence of thigh and lower leg with foot present, bilateral",True
17498,"congenital absence of both forearm and hand, unilateral",True
17499,"congenital absence of both forearm and hand, bilateral",True
17500,"congenital absence of both lower leg and foot, unilateral",True
17501,"congenital absence of both lower leg and foot, bilateral",True
17502,"acheiria, unilateral",True
17503,"acheiria, bilateral",True
17504,"apodia, unilateral",True
17505,"apodia, bilateral",True
17513,"split foot, unilateral",True
17514,"split foot, bilateral",True
17515,"brachydactyly of fingers, unilateral",True
17516,"brachydactyly of fingers, bilateral",True
17517,"brachydactyly of toes, unilateral",True
17518,"brachydactyly of toes, bilateral",True
17519,"symbrachydactyly of hand and foot, unilateral",True
17527,"polydactyly of an index finger, unilateral",True
17537,"Preaxial polydactyly of toes, unilateral",True
17554_17555,radio-ulnar synostosis,True
17558,"congenital elbow dislocation, unilateral",True
17559,"congenital elbow dislocation, bilateral",True
17560,congenital genu recurvatum,True
17561,congenital genu flexum,True
17562,"congenital patella dislocation, unilateral",True
17564,"macrodactyly of fingers, unilateral",True
17565,"macrodactyly of fingers, bilateral",True
17566,"macrodactyly of toes, unilateral",True
17567,"macrodactyly of toes, bilateral",True
17585,painful orbital and systemic neurofibromas-marfanoid habitus syndrome,True
17586,onychocytic matricoma,True
17587,onychomatricoma,True
17589,follicular cholangitis and pancreatitis,True
17591,combined pulmonary fibrosis-emphysema syndrome,True
17599,splenic diffuse red pulp small B-cell lymphoma,True
17603,ALK-negative anaplastic large cell lymphoma,True
17606,facial nerve palsy due to herpes zoster infection,True
17613,intellectual disability-hypotonia-skin hyperpigmentation syndrome,True
17617,acquired adult-onset immunodeficiency,True
17618,congenital sucrase-isomaltase deficiency with starch intolerance,True
17619,congenital sucrase-isomaltase deficiency with minimal starch tolerance,True
17620,congenital sucrase-isomaltase deficiency without starch intolerance,True
17621,congenital sucrase-isomaltase deficiency with starch and lactose intolerance,True
17622,congenital sucrase-isomaltase deficiency without sucrose intolerance,True
17628,myospherulosis,True
17642,intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome,True
17659,sporadic hyperekplexia,True
17677,focal acral hyperkeratosis,True
17691,erythrocyte galactose epimerase deficiency,True
17692,generalized galactose epimerase deficiency,True
17695,"glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form",True
17696,"glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form",True
17701,"glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form",True
17712,combined pancreatic lipase-colipase deficiency,True
17737,intermediate severe Salla disease,True
17770,Robinow-like syndrome,True
17781,12p12.1 microdeletion syndrome,True
17784,Epstein-Barr virus-associated gastric carcinoma,True
17785,PENS syndrome,True
17788,contractures - webbed neck - micrognathia - hypoplastic nipples syndrome,True
17789,idiopathic linear interstitial keratitis,True
17790,gastric adenocarcinoma and proximal polyposis of the stomach,True
17793,marfanoid habitus-inguinal hernia-advanced bone age syndrome,True
17798,Spigelian hernia-cryptorchidism syndrome,True
17799,Meigs syndrome,True
17800,pseudo-Meigs syndrome,True
17801,atypical Meigs syndrome,True
17803,primary progressive apraxia of speech,True
17804,autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome,True
17807,growing teratoma syndrome,True
17812,segmental progressive overgrowth syndrome with fibroadipose hyperplasia,True
17815,acquired porencephaly,True
17816_17817,primary amyloidosis,True
17818,lethal arteriopathy syndrome due to fibulin-4 deficiency,True
17819,atypical dentin dysplasia due to SMOC2 deficiency,True
17825,silent pituitary adenoma,True
17826,null pituitary adenoma,True
17832,mycobacterium xenopi infection,True
17833,primary hypereosinophilic syndrome,True
17835,lymphocytic hypereosinophilic syndrome,True
17839,"classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form",True
17840,"classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form",True
17849,Siegler-Brewer-Carey syndrome,True
17862,paraquat poisoning,True
17866,subpulmonary stenosis,True
17870,supravalvular pulmonary stenosis,True
17871,bilateral massive adrenal hemorrhage,True
17874,Argentine hemorrhagic fever,True
17875,Bolivian hemorrhagic fever,True
17876,Venezuelan hemorrhagic fever,True
17877,Brazilian hemorrhagic fever,True
17878,Chapare hemorrhagic fever,True
17879,hantavirus pulmonary syndrome,True
17882,Omsk hemorrhagic fever,True
17887,renal cell carcinoma associated with neuroblastoma,True
17890,tubulocystic renal cell carcinoma,True
17900,autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency,True
17901,autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency,True
17902,autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency,True
17903,autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency,True
17906,amyloidosis cutis dyschromia,True
17907,primary lymphoma of the conjunctiva,True
17925,T-cell immunodeficiency with epidermodysplasia verruciformis,True
17926,multiple paragangliomas associated with polycythemia,True
17927,severe lateral tibial bowing with short stature,True
17929,congenital achiasma,True
17930,mixed sclerosing bone dystrophy with extra-skeletal manifestations,True
17931,hereditary inclusion body myopathy type 4,True
17933,hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation,True
17942,Hendra virus infection,True
17943,autoerythrocyte sensitization syndrome,True
17948,ABetaA21G amyloidosis,True
17952,non-familial rare disease with dilated cardiomyopathy,True
17958,magic syndrome,True
17963,"46,XX disorder of sex development induced by endogenous maternal-derived androgen",True
17964,"46,XX disorder of sex development induced by exogenous maternal-derived androgen",True
17974,"46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors",True
17980,syngnathia multiple anomalies,True
17981,syngnathia-cleft palate syndrome,True
17992,autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis,True
17993,cerebral sinovenous thrombosis,True
17997,telecanthus-hypertelorism-strabismus-pes cavus syndrome,True
18000,hereditary thrombocytosis with transverse limb defect,True
18001,inverse Klippel-Trenaunay syndrome,True
18003,limbic encephalitis with DPP6 antibodies,True
18007,mosaic genome-wide paternal uniparental disomy,True
18008,idiopathic giant cell myocarditis,True
18009,non-hypoproteinemic hypertrophic gastropathy,True
18014,transient neonatal multiple acyl-CoA dehydrogenase deficiency,True
18016,classic neuroendocrine tumor of appendix,True
18022,hemoglobin Lepore-beta-thalassemia syndrome,True
18039,selective IgM deficiency,True
18046,thrombocytopenia-robin sequence syndrome,True
18047,familial thrombomodulin anomalies,True
18062,autosomal dominant trichoodontoonychodysplasia-syndactyly,True
18064,trigonocephaly-broad thumbs syndrome,True
18083,transient tyrosinemia of the newborn,True
18084,Uhl anomaly,True
18107,idiopathic recurrent and disabling cutaneous herpes,True
18108,idiopathic disseminated cytomegalovirus infection,True
18109,fulminant viral hepatitis,True
18110,lethal idiopathic viral infection,True
18111,idiopathic severe pneumococcemia,True
18122,digital anomalies-intellectual disability-short stature syndrome,True
18124,Oncogenic osteomalacia,True
18125,focal epilepsy-intellectual disability-cerebro-cerebellar malformation,True
18127,16q24.1 microdeletion syndrome,True
18128,phalangeal microgeodic syndrome,True
18139,scleredema,False
18141,"pyruvate carboxylase deficiency, infantile form",True
18142,"pyruvate carboxylase deficiency, severe neonatal type",True
18143,"pyruvate carboxylase deficiency, benign type",True
18145,congenital retinal arteriovenous communication,True
18146_18147,idiopathic macular telangiectasia,True
18148,vasoproliferative tumor of retina,True
18152,serpiginous choroiditis,True
18154_17556_17557,Madelung deformity,True
18156,3q26q27 microdeletion syndrome,True
18159,atypical hemolytic-uremic syndrome with DGKE deficiency,True
18161,non-hereditary retinoblastoma,True
18164,arterial thoracic outlet syndrome,True
18165,venous thoracic outlet syndrome,True
18173,acute opioid poisoning,True
18181,staphylococcal scalded skin syndrome,True
18192,paratesticular adenocarcinoma,True
18197,"mitochondrial DNA depletion syndrome, hepatocerebrorenal form",True
18199,new-onset refractory status epilepticus,True
18206,childhood-onset autosomal recessive myopathy with external ophthalmoplegia,True
18207,2p13.2 microdeletion syndrome,True
18211,Balint syndrome,True
18223,systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood,True
18224,hydroa vacciniforme-like lymphoma,True
18226,infantile epileptic-dyskinetic encephalopathy,True
18228,bipartite talus,True
18245,2p21 microdeletion syndrome without cystinuria,True
18249,finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome,True
18252,focal palmoplantar keratoderma with joint keratoses,True
18255,"spondylometaphyseal dysplasia, Czarny-Ratajczak type",True
18258,Angora hair nevus,True
18259,didymosis aplasticosebacea,True
18260,scalp syndrome,True
18261,Nevada syndrome,True
18263,fetal carbamazepine syndrome,True
18267,combined cervical dystonia,True
18268,Medich giant platelet syndrome,True
18269,white platelet syndrome,True
18302,acquired kinky hair syndrome,True
18308,liver mesenchymal hamartoma,True
18311,acromelanosis,True
18314,infantile-onset mesial temporal lobe epilepsy with severe cognitive regression,True
18315,X-linked osteoporosis with fractures,True
18316,fatal post-viral neurodegenerative disorder,True
18317,growth retardation-mild developmental delay-chronic hepatitis syndrome,True
18332,"multiple acyl-CoA dehydrogenase deficiency, severe neonatal type",True
18333,"multiple acyl-CoA dehydrogenase deficiency, mild type",True
18339,PrP systemic amyloidosis,True
18357,neonatal antiphospholipid syndrome,True
18358,neonatal autoimmune hemolytic anemia,True
18359,neonatal dermatomyositis,True
18361,neonatal scleroderma,True
18362,persistent idiopathic facial pain,True
18380,idiopathic avascular necrosis,True
18382,epiphysiolysis of the hip,True
18430,partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome,True
18439,eosinophilic colitis,True
18445,global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome,True
18449,acquired cystic disease-associated renal cell carcinoma,True
18460,Eales disease,True
18480,"carcinoma of esophagus, salivary gland type",True
18481,undifferentiated carcinoma of esophagus,True
18484,semicircular canal dehiscence syndrome,True
18486,visual snow syndrome,True
18489,autoimmune encephalopathy with parasomnia and obstructive sleep apnea,True
18494,microcephaly-short stature-intellectual disability-facial dysmorphism syndrome,True
18499,"double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy",True
18503,"carcinoma of stomach, salivary gland type",True
18504,undifferentiated carcinoma of stomach,True
18507,microcephaly-complex motor and sensory axonal neuropathy syndrome,True
18523,pancreatic mucinous cystadenoma,True
18525,solid pseudopapillary carcinoma of pancreas,True
18527,osteoclastic giant cell tumor of pancreas,True
18547,acute tricyclic antidepressant poisoning,True
18548,acute poisoning by drugs with membrane-stabilizing effect,True
18552,urachal sinus,True
18553,urachal diverticulum,True
18561,precocious puberty in female,True
18563_17509_17510,adactyly of foot,True
18581,progressive encephalomyelitis with rigidity and myoclonus,True
18583,human infection by orthopoxvirus,True
18585,pediatric arterial ischemic stroke,True
18586,zinc-responsive necrolytic acral erythema,True
18587,non-recovering obstetric brachial plexus lesion,True
18588,ALECT2 amyloidosis,True
18599,congenital oculomotor nerve palsy,True
18600,congenital abducens nerve palsy,True
18602,necrotizing soft tissue infection,True
18603,interstitial lung disease due to SP-c deficiency,True
18606,extensive peripapillary myelinated nerve fibers,True
18616,central serous chorioretinopathy,True
18617,baroreflex failure,True
18620,hypothalamic adipsic hypernatraemia syndrome,True
18621,lymphoplasmacytic lymphoma without IgM production,True
18623,postpartum psychosis,True
18625,classic stiff person syndrome,True
18627,ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor,True
18628,HIV-associated cancer,True
18629,focal stiff limb syndrome,True
18635,idiopathic phalangeal acro-osteolysis,True
18642,NIK deficiency,True
18643,susceptibility to localized juvenile periodontitis,True
18648,Keratocystic odontogenic tumor,True
18651,lipoyl transferase 2 deficiency,True
18654,idiopathic dropped head syndrome,True
18655,hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome,True
18665,X-linked acrogigantism due to a point mutation,True
18670,symptomatic form of fragile X syndrome in female carrier,True
18671,IgG4-related kidney disease,True
18672,IgG4-related aortitis,True
18674,IgG4-related submandibular gland disease,True
18676,eosinophilic angiocentric fibrosis,True
18678,polyclonal hyperviscosity syndrome,True
18679,primary cutaneous plasmacytosis,True
18680,cutaneous pseudolymphoma,True
18688,anti-p200 pemphigoid,True
18689,plasma cell leukemia,True
18692,variably protease-sensitive prionopathy,True
18697,1p35.2 microdeletion syndrome,True
18698,hereditary neuroendocrine tumor of small intestine,True
18702,TAFRO syndrome,True
18703,isolated splenogonadal fusion,True
18706,syndromic sensorineural deafness due to combined oxidative phosphorylation defect,True
18708,squamous cell carcinoma of the oral tongue,True
18735,multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome,True
18737,catastrophic antiphospholipid syndrome,True
18738,benign metanephric tumour,True
18739,neonatal alloimmune neutropenia,True
18742,familial gastric type 1 neuroendocrine tumor,True
18750,class I glucose-6-phosphate dehydrogenase deficiency,True
18756,euthyroid Graves orbitopathy,True
18757,supratip dysplasia,True
18759,childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome,True
18761,SMARCA4-deficient sarcoma of thorax,True
18763,Tubulinopathy-associated dysgyria,True
18766,chronic enteropathy associated with SLCO2A1 gene,True
18767,severe primary trimethylaminuria,True
18769,isosporiasis,True
18773,autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome,True
18774,erythrokeratodermia-cardiomyopathy syndrome,True
18777,autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome,True
18780,congenital generalized hypercontractile muscle stiffness syndrome,True
18783,fibroblastic rheumatism,True
18784,pediatric multiple sclerosis,True
18793,primary condylar hyperplasia,True
18806,primary intrahepatic lithiasis,True
18807,idiopathic ductopenia,True
18809,idiopathic peliosis hepatis,True
18810,lethal hydranencephaly-diaphragmatic hernia syndrome,True
18811,congenital portosystemic shunt,True
18813,high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement,True
18818,facial diplegia with paresthesias,True
18826,Lewis-Sumner syndrome,True
18832,HTRA1-related autosomal dominant cerebral small vessel disease,True
18837,postinfectious vasculitis,True
18839,acquired schizencephaly,True
18847,omphalomesenteric cyst,True
18885,orbital leiomyoma,True
18903,sarcocystosis,True
18930,monosomy 21,True
18932,cirrhotic cardiomyopathy,True
18941,furuncular myiasis,True
18962,common mesentery,True
18978,IgG4-related mediastinitis,True
18983,tolosa-Hunt syndrome,True
18984,Oroya fever,True
18987,granulomatous mastitis,True
18991,hepatoportal sclerosis,True
18992,IgG4-related thyroid disease,True
19025,extracutaneous mastocytoma,True
19029,segmental odontomaxillary dysplasia,True
19034,accessory pancreas,True
19077,warty dyskeratoma,True
19094,congenital Epstein-Barr virus infection,True
19103,benign exophthalmos syndrome,True
19109,CANOMAD syndrome,True
19140,acute ackee fruit intoxication,True
19156,angioosteohypotrophic syndrome,True
19191,IgG4-related dacryoadenitis and sialadenitis,True
19195,hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome,True
19196,Foix-Alajouanine syndrome,True
19204,respiratory bronchiolitis-interstitial lung disease syndrome,True
19206,sparse hair-short stature-skin anomalies syndrome,True
19317,follicular atrophoderma-basal cell carcinoma,True
19320,acanthokeratolytic verrucous nevus,True
19322,pemphigus vegetans,True
19327,phakomatosis spilorosea,True
19328_19329,lymphatic malformation,True
19333,autosomal recessive hyperinsulinism due to SUR1 deficiency,True
19334,autosomal recessive hyperinsulinism due to Kir6.2 deficiency,True
19335,mild hyperphenylalaninemia,True
19357,congenital narrowing of cervical spinal canal,True
19364,pseudotyphus of California,True
19368,florid cemento-osseous dysplasia,True
19377,Mycoplasma encephalitis,True
19378,la Crosse encephalitis,True
19386,progressive rubella panencephalitis,True
19393,idiopathic malabsorption due to bile acid synthesis defects,True
19396,collagen type III glomerulopathy,True
19397,unknown leukodystrophy,True
19398,desmin-related myopathy with Mallory body-like inclusions,True
19413,ischio-vertebral syndrome,True
19417,X-linked intellectual disability-precocious puberty-obesity syndrome,True
19426,X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome,True
19431,primitive portal vein thrombosis,True
19445,trichofolliculoma,True
19449,lissencephaly type 3-familial fetal akinesia sequence syndrome,True
19461,B-cell prolymphocytic leukemia,True
19462,splenic marginal zone lymphoma,True
19465,nodal marginal zone B-cell lymphoma,True
19466,lymphomatoid granulomatosis,True
19470,aggressive NK-cell leukemia,True
19479,histiocytic sarcoma,True
19480,Langerhans cell sarcoma,True
19483,methotrexate-associated lymphoproliferative disorders,True
19484,hypothalamic hamartomas with gelastic seizures,True
19485,idiopathic hemiconvulsion-hemiplegia syndrome,True
19488,myoclonic epilepsy in non-progressive encephalopathies,True
19493,primary adult heart tumor,True
19494,primary pediatric heart tumor,True
19498,tungiasis,False
19527,undifferentiated connective tissue syndrome,True
19538,Gaisbock syndrome,True
19545,systemic monochloroacetate poisoning,True
19550,hereditary motor and sensory neuropathy with acrodystrophy,True
19559,hypertrophic or verrucous lupus erythematosus,True
19579,discrete papular lichen myxedematosus,True
19580,papular mucinosis of infancy,True
19581,acral persistent papular mucinosis,True
19582,self-healing papular mucinosis,True
19583,localized lichen myxedematosus with mixed features of different subtypes,True
19584,localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms,True
19585,scleromyxedema without monoclonal gammopathy,True
19604,acquired monoclonal Ig light chain-associated Fanconi syndrome,True
19607,unspecified juvenile idiopathic arthritis,True
19620,congenital esophageal diverticulum,True
19621,chronic pneumonitis of infancy,True
19622,non-specific interstitial pneumonia,True
19626,isolated ankyloblepharon filiforme adnatum,True
19630,congenital ectropion uveae,True
19649,idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis,True
19650,idiopathic steroid-sensitive nephrotic syndrome with minimal change,True
19651,idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation,True
19652,familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation,True
19653,familial idiopathic steroid-resistant nephrotic syndrome with minimal changes,True
19654,familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis,True
19655,sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis,True
19656,sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis,True
19669,hypochondrogenesis,True
19728,heavy chain deposition disease,True
19729,light and heavy chain deposition disease,True
19730,light chain deposition disease,True
19731,AApoAI amyloidosis,True
19732,ALys amyloidosis,True
19733,AFib amyloidosis,True
19738,atypical hemolytic-uremic syndrome with H factor anomaly,True
19739,atypical hemolytic-uremic syndrome with anti-factor H antibodies,True
19742,late-onset nephronophthisis,True
19752,pediatric Castleman disease,True
19753,localized Castleman disease,True
19754,multicentric Castleman disease,True
19760,terminal transverse defects of arm,True
19765,Celosomia,False
19770,X-linked dominant intellectual disability-epilepsy syndrome,True
19772,blepharospasm-oromandibular dystonia syndrome,True
19774,Holmes-Gang syndrome,True
19775,Chudley-Lowry-Hoar syndrome,True
19777,Carpenter-Waziri syndrome,True
19779,Renier-Gabreels-Jasper syndrome,True
19789,cytophagic histiocytic panniculitis,True
19809,congenital aortic valve insufficiency,True
19811,tricuspid valve agenesis,True
19814,straddling or overriding tricuspid valve,True
19815,accessory tricuspid valve tissue,True
19819,double-orifice mitral valve,True
19821,aneurysm or dilatation of ascending aorta,True
19823,premature closure of the arterial duct,True
19836,congenital anomaly of hepatic vein,True
19840,acropectororenal dysplasia,True
19843,pituitary hormone deficiency secondary to a granulomatous disease,True
19862,levocardia,False
19865,mosaic trisomy 4,True
19866,mosaic trisomy 5,True
19868,mosaic trisomy 10,True
19869,mosaic trisomy 22,True
19870,distal trisomy 1p36,True
19871,distal trisomy 2p,True
19872,distal trisomy 3p,True
19873,4p16.3 microduplication syndrome,True
19874,distal trisomy 7p,True
19875,Beckwith-Wiedemann syndrome due to 11p15 microduplication,True
19877,distal trisomy 2q,True
19878,3q26 microduplication syndrome,True
19879,distal trisomy 4q,True
19881,distal trisomy 6q,True
19882,distal trisomy 8q,True
19883,distal trisomy 9q,True
19884,distal trisomy 10q,True
19885,distal trisomy 11q,True
19886,distal trisomy 13q,True
19887,distal trisomy 16q,True
19888,distal trisomy 20q,True
19889,distal trisomy 22q,True
19890,non-distal trisomy 9q,True
19892,distal monosomy 7p,True
19895,distal monosomy 4q,True
19898,distal monosomy 14q,True
19899,distal monosomy 20q,True
19900,non-distal monosomy 12q,True
19903,ring chromosome 2,True
19904,ring chromosome 3,True
19905,ring chromosome 9,True
19906,ring chromosome 11,True
19908,ring chromosome 15,True
19909,ring chromosome 16,True
19916,maternal uniparental disomy of chromosome 16,True
19918,maternal uniparental disomy of chromosome 21,True
19919,maternal uniparental disomy of chromosome 22,True
19922,paternal uniparental disomy of chromosome 7,True
19923,Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11,True
19924,paternal uniparental disomy of chromosome 20,True
19925,paternal uniparental disomy of chromosome 21,True
19930_19931,Leydig cell hypoplasia due to LH resistance,True
19932,isolated partial vaginal agenesis,True
19953,mega-cisterna magna,True
19971,melanoma of soft tissue,True
19972,dural sinus malformation,True
19976,dementia pugilistica,True
19979,"renal hypoplasia, unilateral",True
19983,multiloculated renal cyst,True
19984,renal tubular dysgenesis due to twin-twin transfusion,True
19985,drug-related renal tubular dysgenesis,True
19986,sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy,True
19990,non-amyloid fibrillary glomerulopathy,True
19993,congenital renal artery stenosis,True
19994,maternal uniparental disomy of chromosome 13,True
20007,absence of the pulmonary artery,True
20084,lymphoproliferative disease associated with primary immune disease,True
20174,precancerous lesion of palpebral epidermis,True
20178,palpebral lentiginosis,True
20181,mesenchymatous palpebral tumor,True
20183,neurogenic palpebral tumor,True
20308,"benign childhood occipital epilepsy, Gastaut type",True
20317,acute myeloid leukemia with 11q23 abnormalities,True
20338,adult pure red cell aplasia,True
20353,von Hippel anomaly,True
20354,coloboma of choroid and retina,True
20357,coloboma of eyelid,True
20358,coloboma of optic disc,True
20362,inverse Marcus-Gunn phenomenon,True
20370,Cogan-Reese syndrome,True
20371,essential iris atrophy,True
20383,fundus pulverulentus,True
20385,congenitally uncorrected transposition of the great arteries with coarctation,True
20389,pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome,True
20390,pulmonary artery coming from patent ductus arteriosus,True
20393,discrete fibromuscular subaortic stenosis,True
20396,anomaly of the tricuspid valve chordae,True
20397,parachute tricuspid valve,True
20399,congenital hypoplasia of the mitral valve annulus,True
20400,congenital supravalvular mitral ring,True
20401,congenital unguarded mitral orifice,True
20402,congenital accessory mitral valve tissue,True
20403,congenital mitral valve agenesis,True
20405,straddling and/or overriding mitral valve,True
20409,univentricular heart with single atrio-ventricular valve,True
20410,aorto-right ventricular tunnel,True
20411,aorto-left ventricular tunnel,True
20412,congenital patent ductus arteriosus aneurysm,True
20413,encircling double aortic arch,True
20414,persistent fifth aortic arch,True
20415,Kommerell diverticulum,True
20416,Neuhauser anomaly,True
20418,dysphagia lusoria,True
20420,pulmonary branch stenosis,True
20421,coronary artery intramyocardial course,True
20422,aortopulmonary coronary arterial course,True
20423,stenosis or atrophy of the coronary ostium,True
20424,intramural coronary arterial course,True
20425,abnormal number of coronary ostia,True
20426,malposition of the coronary ostium,True
20427,Laubry-Pezzi syndrome,True
20428,congenital Gerbode defect,True
20430,cor triatriatum sinister,True
20431,juxtaposition of the atrial appendages,True
20432,ectasia of the right atrial appendage,True
20433,ectasia of the left appendage,True
20438,atrial septal aneurysm,True
20440,persistent left superior vena cava connecting to the left-sided atrium,True
20441_20448,right vena cava connecting to left-sided atrium,True
20442,left superior vena cava persisting to left-sided atrium,True
20443,absence of innominate vein,True
20444,subaortic course of innominate vein,True
20445,agenesis of the superior vena cava,True
20446,coronary sinus stenosis,True
20447,coronary sinus atresia,True
20449,persistent eustachian valve,True
20450,azygos continuation of the inferior vena cava,True
20451,congenital stenosis of the inferior vena cava,True
20452,inferior vena cava interruption,True
20454_20455,congenital agenesis of pericardium,True
20456,pleuro-pericardial cyst,True
20457,6-phosphogluconate dehydrogenase deficiency,True
20459,unstable hemoglobin disease,True
20461,epiblepharon,True
20462,tarsal kink syndrome,True
20464,euryblepharon,True
20465,congenital eyelid retraction,True
20468,paternal uniparental disomy of chromosome 13,True
20474,cheirospondyloenchondromatosis,True
20476,mesial temporal lobe epilepsy with hippocampal sclerosis,True
20477,progeria-associated arthropathy,True
20507,Cree leukoencephalopathy,True
20518,Hashimoto-Pritzker syndrome,True
20520,adult pulmonary Langerhans cell histiocytosis,True
20532,spirillary rat-bite fever,True
20533,streptobacillary rat-bite fever,True
20554,Heiner syndrome,True
20567,apnea of prematurity,True
20569,intermediate DEND syndrome,True
20582,benign uterine ligament neoplasm,True
20597,angiokeratoma of scrotum,True
20600,acute pharyngitis,True
20638,superficial spreading melanoma,True
20646,ocular adnexal lymphoma,True
20649,warty carcinoma of the penis,True
20651,mixed germ cell tumor of vulva,True
20652,immature teratoma of vulva,True
20658,infiltrating ureter transitional cell carcinoma,True
20659,upper tract urothelial carcinoma,True
20660,osteoblastic osteosarcoma,True
20661,undifferentiated round cell sarcoma,True
20662,borderline ovarian serous tumor,True
20666,Löfgren syndrome,True
20670,antithrombin deficiency type 2,True
20680,acute bronchiolitis,True
20686,acute tonsillitis,True
20694,salivary gland epithelial myoepithelial carcinoma,True
20697,lung epithelial-myoepithelial carcinoma,True
20706,Heberden's node,True
20707,central hearing loss,True
20708,brachial amyotrophic diplegia,True
20709,Majocchi granuloma,True
20711,selective peripheral resistance to thyroid hormone,True
20715,"Multiple system atrophy 1, susceptibility to",True
20725,anemia due to chronic disorder,True
20731,arbovirus infection,True
20757,sporadic hemiplegic migraine,True
20764,"carcinoma, Brown-Pearce",True
20767,cauda equina syndrome with neurogenic bladder,True
20779,cartilage development disorder,True
20782,chronic gingivitis,True
20797,decompression sickness,True
20800,demyelinating disease of central nervous system,True
20801,rectal medullary carcinoma,True
20805,benign basal cell neoplasm,True
20810,congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome,True
20812,"exposure, dental pulp",True
20813,benign testicular sertoli cell tumor,True
20814,miliaria alba,True
20816,miliaria papulosa,True
20817,miliaria vesiculosa,True
20818,secondary dentine,True
20823,infantile miliaria,True
20830,diaphragmitis,True
20838,anterior nasal diphtheria,True
20860,faucial diphtheria,True
20863,laryngeal diphtheria,True
20866,nasopharyngeal diphtheria,True
20959,Mansonella ozzardi infection,True
20971,gonococcal urethritis,True
20974,laryngeal granuloma,True
20977,granulomatous prostatitis,True
20983,myocardial rupture,True
21010,skin lymphangiosarcoma,True
21033_21032,herpes zoster dermatitis,True
21048,benign mastocytoma,True
21081,anti-NMDA receptor encephalitis,True
21090,lipid-rich breast carcinoma,True
21101,appendix L-cell glucagon-like peptide-producing neuroendocrine tumor,True
21115,luminal B breast carcinoma,True
21116,luminal A breast carcinoma,True
21130,disorder of sphingolipid biosynthesis,True
21131,frontal lobe ependymal tumor,True
21133,acquired factor XIII deficiency,True
21134,acquired factor X deficiency,True
21172,Timothy syndrome type 2 (disorder),True
21175,herpetic vulvovaginitis,True
21180,acquired xanthinuria,True
21183,HTLV-2 infection,True
21273,leiomyoma of ciliary body,True
21275,papilloma of eyelid,True
21276,papilloma of buccal mucosa,True
21279,mucoepidermoid carcinoma of submandibular gland,True
21280,mucoepidermoid carcinoma of parotid gland,True
21281,cavernous hemangioma of retina,True
21282,malignant teratoma of testis,True
21283,malignant teratoma of mediastinum,True
21284,carcinoma in situ of ureter,True
21285,carcinoma in situ of urethra,True
21287,carcinoma in situ of epiglottis,True
21290,carcinoma in situ of appendix,True
21291,carcinoma in situ of fundus of stomach,True
21292,carcinoma in situ of gastric body,True
21294,carcinoma in situ of gastric cardia,True
21296,carcinoma in situ of renal pelvis,True
21297,carcinoma in situ of nasopharynx,True
21298,carcinoma in situ of oropharynx,True
21299,carcinoma in situ of extrahepatic bile duct,True
21300,adenoid cystic carcinoma of oropharynx,True
21301,adenoma of nipple,True
21317,cancer of cerebellum,True
21324,malignant neoplasm of abdominal esophagus,True
21325,malignant neoplasm of thoracic esophagus,True
21326,malignant neoplasm of cervical esophagus,True
21329,carcinoma of soft palate,True
21334,immunoproliferative disorder,True
21339,carcinoma of hard palate,True
21340,intertrigo,False
21377,hypertrophic lichen planus,True
21389,neoplasm of aortic body,True
21390,polyp of ureter,True
21402,polyp of external auditory canal,True
21404,polyp of sphenoidal sinus,True
21408,polyp of frontal sinus,True
21412,polyp of maxillary sinus,True
21418,polyp of ethmoidal sinus,True
21420,polyp of vocal cord,True
21424,hemangiopericytoma of skin,True
21429,squamous cell carcinoma of floor of mouth,True
21431,squamous cell carcinoma of buccal mucosa,True
21437,lipoma of stomach,True
21439,benign neoplasm of pituitary gland,True
21441,benign neoplasm of exocrine pancreas,True
21443,benign neoplasm of lymph node,True
21446,benign neoplasm of epiglottis,True
21455,benign neoplasm of neck,True
21456,benign neoplasm of sternum,True
21458,benign neoplasm of penis,True
21471,benign neoplasm of endometrium,True
21476,benign neoplasm of tongue,True
21478,benign neoplasm of nasopharynx,True
21479,benign neoplasm of oropharynx,True
21480,benign neoplasm of soft palate,True
21481,benign neoplasm of submandibular gland,True
21488,benign neoplasm of lacrimal gland,True
21490,benign neoplasm of sebaceous gland,True
21493,benign neoplasm of minor salivary gland,True
21494,benign neoplasm of parotid gland,True
21495,benign neoplasm of sublingual gland,True
21496,benign neoplasm of lip,True
21505,benign neoplasm of endocardium,True
21509,benign neoplasm of myocardium,True
21516,benign neoplasm of glottis,True
21518,benign neoplasm of hard palate,True
21520,benign neoplasm of floor of mouth,True
21528,benign neoplasm of male breast,True
21531,fibroma of lung,True
21532,fibroma of prostate,True
21534,rectal neuroendocrine tumor G1,True
21537,undifferentiated carcinoma of nasopharynx,True
21538,verrucous carcinoma of oral cavity,True
21542,hemangioma of choroid,True
21543,hemangioma of gingiva,True
21559,non-autoimmune hemolytic anemia,True
21576,fallopian tube endometrioid tumor,True
21577,malignant mediastinal neural neoplasm,True
21588,eyelid sebaceous gland carcinoma,True
21607,eyelid seborrheic keratosis,True
21627,eyelid capillary hemangioma,True
21644,esophageal varices without bleeding,True
21654,diffuse cutaneous mucinosis,True
21664,cervical aortic arch,True
21673,post-bacterial disorder,True
21722,vulvodynia,False
21726,abdominal cystic lymphangioma,True
21727,aberrant subclavian artery,True
21736,proctosigmoiditis,True
21739,prurigo,False
21742,puerperal infection,True
21745,psychosocial short stature,True
21746,pyelocystitis,True
21750,pyonephrosis,True
21752,Achard-Thiers syndrome,True
21758,acquired agranulocytosis,True
21761,acral dysostosis dyserythropoiesis syndrome,True
21762,acrocoxomesomelic dysplasia,True
21765,radiculitis,True
21777,acute rheumatic heart disease,True
21783,streptococcal sore throat,True
21804,silicotuberculosis,True
21805,"acromesomelic dysplasia, Campailla Martinelli type",True
21808,acute cholinergic dysautonomia,True
21811,acute mountain sickness,True
21824,"adult progressive spinal muscular atrophy, Aran Duchenne type",True
21826,aerobic Actinomyces infection,True
21829,agnathia-microstomia-synotia,True
21834,Akaba Hayasaka syndrome,True
21836,Aksu von Stockhausen syndrome,True
21838,Al Gazali Khidr Prem Chandran syndrome,True
21845,Aloi Tomasini Isaia syndrome,True
21849,alopecia macular degeneration growth retardation syndrome,True
21851,alopecia universalis onychodystrophy vitiligo,True
21856,Alsing syndrome,True
21879,small cell variant anaplastic large cell lymphoma,True
21895,temporomandibular joint dysfunction syndrome,True
21896,anterior spinal artery stroke,True
21905,apert-like polydactyly syndrome,True
21907,aplasia cutis autosomal recessive,True
21913,aquagenic pruritus,True
21918,arena syndrome,True
21921,Arnold stickler bourne syndrome,True
21923,Arroyo Garcia Cimadevilla syndrome,True
21927,arthrogryposis epileptic seizures migrational brain disorder,True
21932,infection by Trypanosoma gambiense,True
21935,aspergillus niger infection,True
21941,infection by Trypanosoma rhodesiense,True
21943,tuberculoma,True
21950,autoimmune oophoritis,True
21952,autoimmune progesterone dermatitis,True
21953,tuberculous fibrosis of lung,True
21957,autosomal recessive nonsyndromic congenital nuclear cataract,True
21960,ureteritis,False
21962,baetz-greenwalt syndrome,True
21964,bagatelle Cassidy syndrome,True
21966,baker Vinters syndrome,True
21969,Banti syndrome,True
21977,basaloid follicular hamartoma,True
21994,Berk-Tabatznik syndrome,True
22011,bobble-head doll syndrome,True
22013,Boerhaave syndrome,True
22018,Borrone di Rocco Crovato syndrome,True
22020,Boudhina Yedes Khiari syndrome,True
22022,bowenoid papulosis,True
22025,boylan dew greco syndrome,True
22037,large-cell immunoblastic lymphoma,True
22055,Calabro syndrome,True
22057,calcifying epithelial odontogenic tumor,True
22060,calloso-genital dysplasia,True
22067,Cantu sanchez-corona fragoso syndrome,True
22070,Cantu sanchez-corona hernandez syndrome,True
22071,carbon baby syndrome,True
22089,Carnevale hernandez castillo syndrome,True
22094,Cartwright Nelson Fryns syndrome,True
22096,pyogenic granuloma,True
22098,catamenial pneumothorax,True
22103,chronic prostatitis,True
22109,catatrichy,False
22140,Charles bonnet syndrome,True
22151,Chitty Hall Webb syndrome,True
22171,chromhidrosis,True
22173,chromosome 11q trisomy,True
22174,chromosome 12p deletion,True
22177,chromosome 13q trisomy,True
22178,chromosome 13q-mosaicism,True
22180,chromosome 16 trisomy,True
22196,chronic erosive gastritis,True
22208,crystal arthropathy,True
22220,Parinaud syndrome,True
22236,colpocephaly,True
22293,vascular disorder of penis,True
22308_22880,corticobasal degeneration,True
22311,cote katsantoni syndrome,True
22316,hair defect with photosensitivity and intellectual disability syndrome,True
22321,2-methylacetoacetyl CoA thiolase deficiency,True
22323,2-hydroxyethyl methacrylate sensitization,True
22330,4-hydroxyphenylacetic aciduria,True
22333,5-nucleotidase syndrome,True
22337,AIDS dysmorphic syndrome,True
22338,ALK+ histiocytosis,True
22349,congenital absence of septum pellucidum,True
22380,acute lymphoblastic leukemia congenital sporadic aniridia,True
22397,retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene,True
22398,aglossia and situs inversus,True
22399,retinal ciliopathy due to mutation in the rpgr gene,True
22400,retinal ciliopathy due to mutation in the rpgrip gene,True
22401,agyria pachygyria polymicrogyria,True
22402,agyria-pachygyria type 1,True
22403,Ahumada Del Castillo syndrome,True
22404,retinal ciliopathy due to mutation in usher gene,True
22405,retinal ciliopathy due to mutation in nephronophthisis gene,True
22407,retinal ciliopathy due to mutation in bardet-biedl gene,True
22413,Albright-like syndrome,True
22414,allain-babin-demarquez syndrome,True
22424,alpha-mannosidosis type 1,True
22425,alpha-thalassemia-abnormal morphogenesis,True
22428,aluminosis,False
22432,alves Castelo dos Santos syndrome,True
22435,Mauriac syndrome,True
22444,amyloidosis bronchopulmonary,True
22453,angiomyomatous hamartoma,True
22454,angiosarcoma of the scalp,True
22456,ankle defects short stature,True
22458,annular constricting bands,True
22461,anophthalmia cleft palate micrognathia,True
22462,anophthalmia esophageal atresia cryptorchidism,True
22465,anotia facial palsy cardiac defect,True
22468,antigen-peptide-transporter 2 deficiency,True
22470,aortic dissection lentiginosis,True
22471,childhood aortic valve stenosis,True
22481,APO A-i deficiency,True
22496,arthrogryposis IUGR thoracic dystrophy,True
22500,arthrogryposis multiplex congenita CNS calcification,True
22504,arthrogryposis spinal muscular atrophy,True
22509,asternia,False
22510,atlanto-axial fusion,True
22513,atrophoderma of Pierini and Pasini,True
22518,autoimmune inner ear disease,True
22529,BK-virus nephropathy,True
22535,autonomic facial cephalgia,True
22538,leukoplakia of gingiva,True
22545,Barnicoat Baraitser syndrome,True
22546,basal cell nevus anodontia abnormal bone mineralization,True
22551,Basedow's coma,True
22552,Bazopoulou Kyrkanidou syndrome,True
22553,BD syndrome,True
22555,Beardwell syndrome,True
22556,oculo-cerebral dysplasia,True
22557,behrens baumann dust syndrome,True
22559,benign angiitis of the central nervous system,True
22560,benign metastasizing leiomyoma,True
22567,bhaskar jagannathan syndrome,True
22568,bidirectional tachycardia,True
22572,bilateral renal agenesis dominant type,True
22573_22574,biliary atresia intrahepatic,True
22575,biliary hypoplasia,True
22576,bilirubin induced brain injury in the newborn,True
22577,Billet bear syndrome,True
22578,childhood bladder carcinoma,True
22580,blepharo naso facial syndrome van Maldergem type,True
22586,bone dysplasia Moore type,True
22587,bone dysplasia corpus callosum agenesis,True
22598,brachydactyly absence of distal phalanges,True
22602,brachydactyly small stature face anomalies,True
22603,brachydactyly tibial hypoplasia,True
22605,brachymetapody anodontia hypotrichosis albinoidism,True
22607,extraovarian Brenner tumor of the vagina,True
22608,brittle bone syndrome lethal type,True
22609,bronchial adenomas/carcinoids childhood,True
22610,bronchiectasis oligospermia,True
22611,Brunoni syndrome,True
22612,Brunsting-Perry syndrome,True
22613,bruyn scheltens syndrome,True
22615,burn goodship syndrome,True
22618,burning mouth syndrome type 3,True
22620,CD4 deficiency,True
22622,CDG syndrome type 4,True
22623,CDK4 linked melanoma,True
22633,camptodactyly joint contractures and facial skeletal dysplasia,True
22634,camptodactyly vertebral fusion,True
22636,candida glabrata,True
22639,Cantu sanchez-corona Garcia-Cruz syndrome,True
22642,childhood carcinoid tumor,True
22643,carcinoma of the vocal tract,True
22644,cardiac hydatid cysts with intracavitary expansion,True
22645,cardioencephalomyopathy,True
22646,cardiofacial syndrome short limbs,True
22647,cardiomelic syndrome stratton Koehler type,True
22648,cardiomyopathy and deafness due to tRNA lysine gene mutation,True
22650,cardiomyopathy diabetes deafness,True
22653,cardiomyopathy due to anthracyclines,True
22654,cardiomyopathy hypogonadism collagenoma syndrome,True
22655,cardiomyopathy hypogonadism metabolic anomalies,True
22656,cardiomyopathy spherocytosis,True
22662,carpo tarsal osteolysis recessive,True
22666,cassavism,False
22672_22673,autosomal dominant cataract,True
22675,cataract skeletal anomalies,True
22682,cennamo gangemi syndrome,True
22685,cerebellar agenesis,True
22691,cerebello-olivary atrophy,True
22693,cerebral calcification cerebellar hypoplasia,True
22694,cerebral calcifications opalescent teeth phosphaturia,True
22699,cerebral palsy spastic hemiplegic,True
22700,cerebral palsy spastic monoplegic,True
22712,oculo digital syndrome,True
22714,chester porphyria,True
22729,chondrodysplasia punctata with steroid sulfatase deficiency,True
22733,choreoacanthocytosis amyotrophic,True
22734,chorioretinopathy dominant form microcephaly,True
22735,choroid plexus cyst,True
22736,occupational lung disease,True
22739,Christian demyer franken syndrome,True
22740,Christian Johnson angenieta syndrome,True
22745,mixed dust pneumoconiosis,True
22746,chromosome 13p duplication,True
22749,non-neoplastic nevus,True
22752,chromosome 16p13.3 deletion syndrome,True
22755,chromosome 18 mosaic monosomy,True
22756,chromosome 1q deletion,True
22757,chromosome 20 trisomy,True
22758,"chromosome 22, monosome mosaic",True
22759,trisomy 22,False
22760,chromosome 22q deletion,True
22761,chromosome 3 duplication syndrome,True
22765,chronic demyelinizing neuropathy with IgM monoclonal,True
22769,ciliary dyskinesia-bronchiectasis,True
22770,circumscribed cutaneous aplasia of the vertex,True
22771,circumscribed disseminated keratosis Jadassohn lew type,True
22772_23067,Kaposi sarcoma,True
22775,cleft lip and palate malrotation cardiopathy,True
22776,cleft lip and/or palate with mucous cysts of lower,True
22777,cleft lip palate dysmorphism kumar type,True
22778,cleft lip palate intellectual disability corneal opacity,True
22779,cleft lip palate oligodontia syndactyly pili torti,True
22780,cleft lip palate pituitary deficiency,True
22781,cleft lip palate-tetraphocomelia,True
22782,cleft lower lip cleft lateral canthi chorioretinal,True
22785,cleft palate cardiac defect ectrodactyly,True
22786,cleft palate colobomata radial synostosis deafness,True
22787,cleft palate heart disease polydactyly absent tibia,True
22790,cleft tongue,True
22791,coarse face hypotonia constipation,True
22792,coccygodynia,True
22794,chromosome 8 deletion,True
22795,deficiency of coenzyme q cytochrome c reductase,True
22798,Cohen lockood wyborney syndrome,True
22799,cold urticaria,True
22802,Collins-Sakati syndrome,True
22803,coloboma porencephaly hydronephrosis,True
22804,colobomata unilobar lung heart defect,True
22805,colonic malakoplakia,True
22809,Colver Steer Godman syndrome,True
22810,Combarros Calleja Leno syndrome,True
22812,complement receptor deficiency,True
22815,congenital absence of the sternocleidomastoid muscle,True
22817,congenital amputation,True
22818,congenital aneurysms of the great vessels,True
22819,congenital arteriovenous shunt,True
22820,congenital articular rigidity,True
22821,congenital benign spinal muscular atrophy dominant,True
22822,congenital cardiovascular shunt,True
22823,congenital contractures,True
22824,congenital craniosynostosis maternal hyperthyroiditis,True
22826,congenital cystic eye multiple ocular and intracranial anomalies,True
22831,congenital heart disease ptosis hypodontia craniostosis,True
22832,congenital heart disease radio ulnar synostosis intellectual disability,True
22839,congenital human immunodeficiency virus,True
22841,congenital hypotrichosis milia,True
22843,congenital mumps,True
22849,congenital stenosis of cervical medullary canal,True
22851,Dennis-Fairhurst-Moore syndrome,True
22854,congenital unilateral pulmonary hypoplasia,True
22855,congenital vagal hyperreflexivity,True
22858,continuous spike-wave during slow sleep syndrome,True
22859,cor biloculare,True
22862,cormier rustin munnich syndrome,True
22863,corneal crystals myopathy neuropathy,True
22865,corneal dystrophy ichthyosis microcephaly intellectual disability,True
22866,corneal dystrophy pigmentary anomaly malabsorption,True
22871,corpus callosum agenesis of blepharophimosis robin type,True
22872,corpus callosum dysgenesis X-linked recessive,True
22873,corpus callosum dysgenesis cleft spasm,True
22874,corpus callosum dysgenesis hypopituitarism,True
22875,cortada Koussef Matsumoto syndrome,True
22876,Cortes Lacassie syndrome,True
22883,craniofacial and skeletal defects,True
22884,craniofacial dysostosis arthrogryposis progeroid appearence,True
22887,craniofrontonasal syndrome Teebi type,True
22888,craniostenosis cataract,True
22889,craniostenosis with congenital heart disease intellectual disability,True
22890,craniosynostosis Fontaine type,True
22891,craniosynostosis Maroteaux Fonfria type,True
22892,craniosynostosis alopecia brain defect,True
22893_22895,craniosynostosis arthrogryposis cleft palate,True
22894,craniosynostosis autosomal dominant,True
22896,craniosynostosis contractures cleft,True
22897,craniosynostosis exostoses nevus epibulbar dermoid,True
22898,craniosynostosis intellectual disability heart defects,True
22899,crawfurd syndrome,True
22900,athyreotic congenital hypothyroidism,True
22901,Crohn disease of the esophagus,True
22907,cutaneous sclerosis,True
22908,cutis gyratum acanthosis nigricans craniosynostosis,True
22909,cutis laxa osteoporosis,True
22912,cutis verticis gyrata mental deficiency,True
22913,cutler bass Romshe syndrome,True
22916,cystic hygroma lethal cleft palate,True
22919,cytokine receptor deficiency,True
22926,daentl towsend Siegel syndrome,True
22930,dandy-walker malformation with nasopharyngeal teratoma and diaphragmatic hernia,True
22932,Davenport-Donlan syndrome,True
22934,Davis Lafer syndrome,True
22936,de Hauwere Leroy adriaenssens syndrome,True
22937,deafness conductive stapedial ear malformation facial palsy,True
22938,deafness goiter stippled epiphyses,True
22941,deafness hypospadias metacarpal and metatarsal syndrome,True
22942,deafness mesenteric diverticula of small bowel neuropathy,True
22945,deafness peripheral neuropathy arterial disease,True
22946,deafness progressive cataract autosomal dominant,True
22948,Deal Barratt Dillon syndrome,True
22949,defective apolipoprotein b-100,True
22953,delta-1-pyrroline-5-carboxylate dehydrogenase deficiency,True
22960,dermatocardioskeletal syndrome boronne type,True
22968,dextrocardia with situs inversus,True
22971,diabetes persistent mullerian ducts,True
22972,diabetic mastopathy,True
22975,diaphragmatic agenesis radial aplasia omphalocele,True
22977,diaphragmatic hernia exomphalos corpus callosum agenesis,True
22978,diaphragmatic hernia upper limb defects,True
22981,die Smulders droog van dijk syndrome,True
22982,die Smulders Vles Fryns syndrome,True
22983,Dieterich disease,True
22985,diffuse cavernous hemangioma of the rectum,True
22986,diffuse idiopathic pulmonary neuroendocrine cell hyperplasia,True
22989,diomedi bernardi placidi syndrome,True
22990,diphallus rachischisis imperforate anus,True
22991,diploid-triploid mosaicism,True
22998,distal arthrogryposis Moore weaver type,True
22999,distichiasis heart congenital anomalies,True
23000,dobrow syndrome,True
23002,double discordia,True
23003,double fingernail of fifth finger,True
23006,doxorubicin induced cardiomyopathy,True
23007,drachtman weinblatt sitarz syndrome,True
23011,Wilson-Mikity syndrome,True
23013,Duker-Weiss-Siber syndrome,True
23015,duodenal atresia tetralogy of fallot,True
23016,duplication of leg mirror foot,True
23017,duplication of the thumb unilateral biphalangeal,True
23018,dupont sellier chochillon syndrome,True
23019,dwarfism bluish sclerae,True
23020,dwarfism deafness retinitis pigmentosa,True
23021,dwarfism lethal type advanced bone age,True
23022,dwarfism thin bones multiple fractures,True
23023,neonatal dacryocystitis,True
23030,dysmorphism cleft palate loose skin,True
23031,dysostosis acral with facial and genital abnormalities,True
23035,Eagle syndrome,True
23038,eccentrochondrodysplasia,True
23039,eccrine mucinous carcinoma,True
23043,ectodermal dysplasia alopecia preaxial polydactyly,True
23045,ectodermal dysplasia arthrogryposis diabetes mellitus,True
23050,ectrodactyly cardiopathy dysmorphism,True
23054,klumpke's paralysis,True
23059,Elliott ludman Teebi syndrome,True
23061,enamel hypoplasia cataract hydrocephaly,True
23062,encephalocele anencephaly,True
23066,enchondromatosis dwarfism deafness,True
23068,engelhard yatziv syndrome,True
23069,enlarged vestibular aqueduct syndrome,True
23071,enterovirus antenatal infection,True
23073,eosinophilic cryptitis,True
23076,eosinophilic pustular folliculitis,True
23079,epidermal nevus vitamin D resistant rickets,True
23083,epimetaphyseal dysplasia cataract,True
23084,epiphyseal dysplasia dysmorphism camptodactyly,True
23089,erythroplakia,True
23091,esophageal atresia coloboma talipes,True
23093,exertional headache,True
23094,exogenous ochronosis,True
23098,extrasystoles short stature hyperpigmentation microcephaly,True
23099,FRAXD syndrome,True
23100,facial clefting corpus callosum agenesis,True
23101,facio digito genital syndrome recessive form,True
23102,facio skeletal genital syndrome rippberger type,True
23106,Fairbank disease,True
23111,familial capillaro-venous leptomeningeal angiomatosis,True
23121,familial partial paralysis,True
23124,familial pulmonary arterial hypertension leucopenia and atrial septal defect,True
23129,Fara Chlupackova syndrome,True
23133,Faye-Petersen-Ward-Carey syndrome,True
23134,febrile ulceronecrotic mucha-habermann disease,True
23137,feigenbaum Bergeron syndrome,True
23138,Feingold trainer syndrome,True
23140,fenton Wilkinson Toselano syndrome,True
23143,fetal enterovirus syndrome,True
23147,fetal parainfluenza virus type 3 syndrome,True
23148,fetal phenothiazine syndrome,True
23152,fibrocartilaginous embolism,True
23153,tuberculous ascites,True
23154,fibromatosis multiple non ossifying,True
23155,fibula aplasia complex brachydactyly,True
23157,fibular hypoplasia scapulo pelvic dysplasia absent,True
23158,Fitz-Hugh-Curtis syndrome,True
23161,viral myocarditis,True
23164,viral pericarditis,True
23165,florid cystic endosalpingiosis of the uterus,True
23167,focal alopecia congenital megalencephaly,True
23170,focal or multifocal malformations in neuronal migration,True
23175,Fontaine farriaux blanckaert syndrome,True
23176,formaldehyde poisoning,True
23182,Franceschini Vardeu Guala syndrome,True
23186,Fraser Jequier Chen syndrome,True
23188,Freiberg disease,True
23193,Friedman Goodman syndrome,True
23194,frints de Smet Fabry Fryns syndrome,True
23196,frontonasal malformation cloacal exstrophy,True
23197,frontonasal dysplasia Klippel feil syndrome,True
23199,frontonasal dysplasia phocomelic upper limbs,True
23200,Fryns Fabry Remans syndrome,True
23203,Fuchs atrophia gyrata chorioideae et retinae,True
23204,Fukuda-Miyanomae-Nakata syndrome,True
23208,Fuqua Berkovitz syndrome,True
23209,galactorrhoea-hyperprolactinaemia,True
23212,Garret-Tripp syndrome,True
23214,gas bloat syndrome,True
23221,Gaucher ichthyosis restrictive dermopathy,True
23226,gershinibaruch Leibo syndrome,True
23227,gestational diabetes insipidus,True
23230,Ghose-Sachdev-Kumar syndrome,True
23232,giant cell myocarditis,True
23238,giant mammary hamartoma,True
23240,gigantism advanced bone age hoarse cry,True
23243,glass-chapman-hockley syndrome,True
23249,polyarticular juvenile rheumatoid arthritis,True
23250,global disaccharide intolerance,True
23255,glossopalatine ankylosis micrognathia ear anomalies,True
23263,glyceraldehyde-3-phosphate dehydrogenase deficiency,True
23267,goldstein hutt syndrome,True
23272,goniodysgenesis intellectual disability short stature,True
23282,granulomatous hypophysitis,True
23286,graphite pneumoconiosis,True
23288,green sandford davison syndrome,True
23290,grix Blankenship Peterson syndrome,True
23368,Ho-Kaufman-McAlister syndrome,True
23388,pityriasis rotunda,True
23415,congenital candidiasis,True
23472,chondrodysplasia situs inversus imperforate anus polydactyly,True
23510,Jaffer-Beighton syndrome,True
23513,Jeune syndrome situs inversus,True
23521,Judge Misch wright syndrome,True
23528,KSHV inflammatory cytokine syndrome,True
23530,kallikrein hypertension,True
23538,Kaplowitz-Bodurtha syndrome,True
23540,Kashani-Strom-Utley syndrome,True
23541,Kasznica-Carlson-Coppedge syndrome,True
23543,Katsantoni-Papadakou-Lagoyanni syndrome,True
23551,C1q nephropathy,True
23554,acquired testicular failure,True
23558,Kocher-debre-Semelaigne syndrome,True
23561,Koone-Rizzo-Elias syndrome,True
23563,Kotzot-Richter syndrome,True
23567,Kozlowski Brown Hardwick syndrome,True
23569,Kozlowski Ouvrier syndrome,True
23571,Kozlowski Rafinski Klicharska syndrome,True
23573,Kozlowski Warren Fisher syndrome,True
23575,Krauss Herman Holmes syndrome,True
23577,Krieble Bixler syndrome,True
23579,Kuster Majewski Hammerstein syndrome,True
23581,Kuster syndrome,True
23605,Laugier-Hunziker syndrome,True
23607,Laurence-Prosser-Rocker syndrome,True
23609,le Marec-Bracq-Picaud syndrome,True
23619,lentigo maligna melanoma,True
23628,levator syndrome,True
23642,Weber syndrome,True
23646,lipodermatosclerosis,True
23650,littoral cell angioma of the spleen,True
23679,hematohidrosis,True
23682,tympanic paraganglioma,True
23696,Marinesco-Sjogren-like syndrome,True
23699,Maroteaux Fonfria syndrome,True
23704,Martinez Monasterio Pinheiro syndrome,True
23726,mediastinal yolk sac tumor,True
23809,Milner-Khallouf-Gibson syndrome,True
23820,Moebius axonal neuropathy hypogonadism,True
23868,melanoma associated retinopathy,True
24171,radio-digito-facial dysplasia,True
24227,miliaria pustulosa,True
24228,miliaria profunda,True
24229,miliaria crystallina,True
24234,Seckel like syndrome majoor-krakauer type,True
24245,ductal eccrine adenocarcinoma,True
24262,massive neonatal aspiration syndrome,True
24275,amebic dysentery,True
24281,juvenile chronic polyarthritis,True
24283,Demodex folliculitis,True
24284,demodicidosis of sebaceous gland,True
24285,epsilon-heavy chain disease,True
24287,congenital vascular malformation,True
24301,acquired mineral metabolism disease,True
24310,angiodysplasia of stomach,True
24312,cancer of short bone of upper limb,True
24314,parasitemia,True
24316,physiological malfunction arising from mental factor,True
24323_24325,glomangiomyoma,True
24326,pleural adenomatoid tumor,True
24344,pityriasis folliculorum,True
24345,pityriasis streptogenes,True
24346,pityriasis amiantacea,True
24348,pityriasis capitis,True
24349,pityriasis alba,True
24350,pityriasis steatoides,True
24354,cytomegalovirus pneumonia,True
24356,primary central sleep apnea syndrome,True
24357,drug induced central sleep apnea,True
24359,central sleep apnea due to periodic breathing,True
24360,central sleep apnea caused by high altitude,True
24363,rapid eye movement sleep disorder,True
24379,"circadian rhythm sleep disorder, irregular sleep wake type",True
24381,"circadian rhythm sleep disorder, jet lag type",True
24382,"circadian rhythm sleep disorder, shift work type",True
24386,"large cell lung carcinoma, clear cell variant",True
24392,anaerobic balanitis,True
24410,infection caused by Bifidobacterium,True
24414,anaerobic cellulitis,True
24418,muscular fibrosis multifocal obstructed vessels,True
24419,enthesitis,False
24421,short stature contractures hypotonia,True
24429,Alice in wonderland syndrome,True
24430,allesthesia,True
24454,sacral nerve plexus disease,True
24459,Aeromonas hydrophila intestinal disease,True
24473,Astrakhan spotted fever,True
24480,dermatosis of eyelid,True
24485,papillary urothelial hyperplasia,True
24504,enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor,True
24518,reactive thrombocytosis,True
24608,dientamoebiasis,True
24620,meningitis caused by poliovirus,True
24630,defective phagocytic cell chemotaxis,True
24632,defective phagocytic cell opsonization,True
24638,pancreatic gastrinoma,True
24639,gastric enterochromaffin cell serotonin-producing neuroendocrine tumor,True
24655_2133,rheumatic pericarditis,True
24673,skin lymphangioma,True
24674,Pancoast syndrome,True
24685,Philadelphia-positive myelogenous leukemia,True
24686,"tenosynovial giant cell tumor, diffuse type",True
24711,malignant mixed epithelial stromal tumor of the kidney,True
24857,immature extragonadal teratoma,True
24861,mixed teratoma and seminoma,True
24863,small size posterior uveal melanoma,True
24864,medium/large size posterior uveal melanoma,True
24868,metastatic carcinoma in the adrenal medulla,True
24873,clitoral carcinoma,True
24884,metastatic carcinoma in the bone,True
24889,benign mesonephroma,True
24892,soft tissue amyloid neoplasm,True
24893,toxocara canis infection (canine roundworms),True
24935,foot rot,False
24953,"lameness, non-human animal",True
24954,"larva migrans, visceral",True
24971,parturient paresis,True
24973,"pneumonia, atypical interstitial, of cattle",True
24982,"salmonella infections, animal",True
25003,goat disease,True
25030,digital dermatitis in cattle,True
25061,edema disease of swine,True
25062,"encephalomyelitis, enzootic porcine",True
25066,"epidermitis, exudative, of swine",True
25086,"hip dysplasia, canine",True
25087,classical swine fever,True
25089,infectious bovine rhinotracheitis,True
25095,"malaria, avian",True
25096,malignant catarrh,True
25100,"mastitis, bovine",True
25129,swine erysipelas,True
25130,swine vesicular disease,True
25135,"tuberculosis, avian",True
25138,vesicular exanthema of swine,True
25139,white muscle disease,True
25149,"encephalopathy, bovine spongiform",True
25152,non-human ape disease,True
25155,"hemorrhagic syndrome, bovine",True
25159,"pneumonia of swine, mycoplasmal",True
25163,white heifer disease,True
25167,"reticuloendotheliosis, avian",True
25263,"strongyle infections, equine",True
25270,"toxoplasmosis, non-human animal",True
25271,"trypanosomiasis, bovine",True
25293,poult enteritis mortality syndrome,True
25369,Nairobi sheep disease,True
25376,African horse sickness,True
25377,African swine fever,True
25381,avian leukosis,True
25382,"sarcoma, avian",True
25385,bluetongue,False
25389,"brucellosis, bovine",True
25397,canine distemper,True
25404,coronaviral enteritis of turkeys,True
25412,feline panleukopenia,True
25417,fowlpox,False
25425,"hepatitis, infectious canine",True
25453,"pneumonia, progressive interstitial, of sheep",True
25457,"pulmonary adenomatosis, ovine",True
25459,rinderpest,False
25478,"venereal tumors, veterinary",True
25484,simian acquired immunodeficiency syndrome,True
25485,feline acquired immunodeficiency syndrome,True
25487,murine acquired immunodeficiency syndrome,True
25488,"leukemia, feline",True
25489,enzootic bovine leukosis,True
25491,feline infectious peritonitis,True
25494,porcine reproductive and respiratory syndrome,True
25505,mink viral enteritis,True
25506,porcine postweaning multisystemic wasting syndrome,True
25510,pythiosis,False
25514,livedoid vasculopathy,True
25556,isocyanate induced asthma,True
25956,ovarian remnant syndrome,True
26045,prurigo nodularis,True
26768,"warfarin sensitivity, X-linked",True
27029,HHV-6 encephalitis,True
27091,xanthogranulomatous sialadenitis,True
27750,serpinopathy with toxic serpin polymerization,True
27751,serpinopathy with loss of serpin function,True
28618,gastroenteric neuroendocrine neoplasm,True
30032,"chromosome 17q11.2 duplication syndrome, 1.4-mb",True
30036,"leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome",True
30604,cystic partially differentiated nephroblastoma,True
30702,autoimmune atherosclerosis,True
30705,Trichomonas prostatitis,True
30706,Trichomonas cystitis,True
30707,Trichomonas balanoposthitis,True
30708,Trichomonas cervicitis,True
30720,trichomonal vulvovaginitis,True
30906,Trichomonas tenax infectious disease,True
30934,"intellectual developmental disorder, autosomal dominant 64",True
30971,immunodeficiency 78 with autoimmunity and developmental delay,True
31010,odontochondrodysplasia 2 with hearing loss and diabetes,True
31013,autoimmune optic neuritis,True
31014,autoimmune gastritis,True
33552,"blood group, lewis system",True
33572,"intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies",True
33809,isolated blepharochalasis,True
33810,isolated iridoschisis,True
33816,thygeson superficial punctate keratopathy,True
33818,Terrien marginal degeneration,True
33838,radiation-induced plexopathy,True
33839,osteoradionecrosis of the mandible,True
33853,congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome,True
33856,LAMA5-related multisystemic syndrome,True
33948,acquired angioedema with C1Inh deficiency,True
33954,monoclonal mast cell activation syndrome,True
33968,immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome,True
33969,inflammatory bowel disease-recurrent sinopulmonary infections syndrome,True
33980,RELA fusion-positive ependymoma,True
34041,congenital axonal neuropathy with encephalopathy,True
34103,infection-related hemolytic uremic syndrome,True
34110,atypical Fanconi syndrome-neonatal hyperinsulinism syndrome,True
34127,IgA pemphigus,True
34143,early-onset calcifying leukoencephalopathy-skeletal dysplasia,True
34146,spastic ataxia-dysarthria due to glutaminase deficiency,True
34147,neonatal epileptic encephalopathy due to glutaminase deficiency,True
34150,idiopathic gastroparesis,True
34186,autosomal recessive extra-oral halitosis,True
34189,primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome,True
34204,syndromic congenital sodium diarrhea,True
34212,methotrexate toxicity,True
34216,resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha,True
34846,primary desmosis coli,True
34987,intraductal tubulopapillary neoplasm of pancreas,True
35004,"serine biosynthesis pathway deficiency, infantile/juvenile form",True
35008,isolated splenic vein thrombosis,True
35009,isolated mesenteric vein thrombosis,True
35112,acute myeloid leukemia with BCR-ABL1,True
35117,PUM1-associated developmental disability-ataxia-seizure syndrome,True
35121,myeloid/lymphoid neoplasm associated with JAK2 rearrangement,True
35122,"GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder",True
35124,"linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies",True
35133,PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome,True
35136,isolated melanotic schwannoma,True
35892,Mills syndrome,True
36915,benign ovarian mucinous tumor,True
36918,punctate acrokeratoderma freckle-like pigmentation,True
37105,lung germ cell tumor,True
37251_1367,congestive splenomegaly,True
37253,ovarian thecoma,True
37738,cauda equina cancer,True
37739,benign neoplasm of cauda equina,True
40654,autosomal dominant oculocutaneous albinism,True
40671,class V glucose-6-phosphate dehydrogenase deficiency,True
40673,malignant peritoneal germ cell tumor,True
40753,inactive tuberculosis,True
41403,toxic amblyopia,True
41535,mesenteric lymphadenitis due to Yersinia infection,True
41536,Far-East scarlet-like fever,True
42495,arteriosclerotic retinopathy,True
42496,ergotism,False
42498,Ruzicka-Goerz-Anton syndrome,True
42600,Sammartino-Decreccio syndrome,True
42601,Samson-Gardner syndrome,True
42602,Samson-Viljoen syndrome,True
42603,Sanderson-Fraser syndrome,True
42604,Sandhaus-Ben-Ami syndrome,True
42605,Y chromosome infertility due to DAZ1 deletion,True
42705,prostatic malacoplakia associated with prostatic abscess,True
42717,Saul-Wilkes-Stevenson syndrome,True
42724,"macrocephaly, intellectual disability, short stature, spastic paraplegia and cns malformations",True
42726,"macrogyria, pseudobulbar palsy and intellectual disability",True
42902,Say-Carpenter syndrome,True
42908,Schaap-Taylor-Baraitser syndrome,True
42911,Schwartz-Cohen-addad-Lambert syndrome,True
42912,Schlegelberger-Grote syndrome,True
42913,Schrander-stumpel-Theunissen-Hulsmans syndrome,True
42915,Schmitt-Gillenwater-Kelly syndrome,True
42924,Vagneur-Triolle-Ripert syndrome,True
42956,Saal-Bulas syndrome,True
42960,Sackey-Sakati-Aur syndrome,True
42961,sacral hemangiomas multiple congenital abnormalities,True
42962,Slti-Salem syndrome,True
42963,wandering spleen,True
42967,rheumatic disease of mitral valve,True
42969,partial duplication of the long arm of chromosome 12,True
42975,pseudoachondroplastic dysplasia 2,True
42980,Westphal disease,True
43004,Weil's disease,True
43069,Zerres Rietschel Majewski syndrome,True
43071,Zazam Sheriff Phillips syndrome,True
43073,Zadik-Barak-Levin syndrome,True
43075,neuroaxonal dystrophy renal tubular acidosis,True
43077,weinstein kliman scully syndrome,True
43083,"coronal synostosis, syndactyly and jejunal atresia",True
43085,"chromosome 1, uniparental disomy 1q12 q21",True
43087,thickened earlobes with conductive deafness from incus-stapes abnormalities,True
43089,acute posterior multifocal placoid pigment epitheliopathy,True
43094,"ichthyosis, follicular",True
43096,holoacardius amorphus,True
43099,Hordnes Engebretsen Knudtson syndrome,True
43101,hypothalamic dysfunction,True
43103,hypothyroidism due to iodide transport defect,True
43108,infantile striato thalamic degeneration,True
43110,jones hersh yusk syndrome,True
43112,lachiewicz sibley syndrome,True
43114,Landy-Donnai syndrome,True
43116,iida kannari syndrome,True
43120,male pseudohermaphroditism due to defective lh molecule,True
43123,massa casaer ceulemans syndrome,True
43125,mcpherson robertson cammarano syndrome,True
43127,mehta lewis patton syndrome,True
43129,merlob grunebaum reisner syndrome,True
43131,michels caskey syndrome,True
43133,microcephaly micropenis convulsions,True
43135,microcephaly microphthalmos blindness,True
43137,isolated microcephaly,True
43139,microcephaly sparse hair intellectual disability seizures,True
43141,microdontia hypodontia short stature,True
43152,negative rheumatoid factor polyarthritis,True
43154,neonatal ovarian cyst,True
43156,nephrotic syndrome ocular anomalies,True
43162,pagon stephan syndrome,True
43166,pancreatic lipomatosis duodenal stenosis,True
43168,panostotic fibrous dysplasia,True
43170,Pavone Fiumara Rizzo syndrome,True
43172,pfeiffer rockelein syndrome,True
43174,Pfeiffer Tietze Welte syndrome,True
43179,piepkorn karp hickok syndrome,True
43183,podder-tolmie syndrome,True
43185,pointer syndrome,True
43191,radial defect robin sequence,True
43193,richieri-costa guion-almeida cohen syndrome,True
43195,rubinstein taybi like syndrome,True
43197,ruvalcaba churesigaew myhre syndrome,True
43199,short limb dwarf lethal colavita kozlowski type,True
43206,trichostasis spinulosa,True
43219,migraine with brainstem aura,True
43226,postpartum amenorrhea-galactorrhea syndrome,True
43230,ciguatera fish poisoning,True
43237,glossodynia,True
43240,hemophilic arthropathy,True
43247,Mallory-Weiss syndrome,True
43251,odontoma,False
43254,papular urticaria,True
43257,pemphigus and fogo selvagem,True
43264,post-traumatic epilepsy,True
43275,TORCH syndrome,True
43277,mosaic trisomy 6,True
43280,Wallerian degeneration,True
43283,silicosiderosis,True
43291,Rokitansky-Aschoff sinuses of the gallbladder,True
43297,vibrio vulnificus infectious disease,True
43303,hyperacusis,True
43310,amaurosis fugax,True
43314,aquarium granuloma,True
43317,amyopathic dermatomyositis,True
43320,piriformis syndrome,True
43330,Mirizzi syndrome,True
43339,lathyrism,False
43343,Chilaiditi syndrome,True
43346,progressive transformation of germinal centers,True
43349,intravascular papillary endothelial hyperplasia,True
43352,fournier gangrene,True
43355,collagenous gastritis,True
43358,engraftment syndrome,True
43361,May-Thurner syndrome,True
43373,sudden sensorineural hearing loss,True
43452,"chromosome 8, trisomy",True
43468,acne keloid,True
43529,carcinoid heart disease,True
43544,nosocomial infection,True
43555,infantile diarrhea,True
43576,endarteritis,True
43589,femoral neck fracture,True
43678,chromosome inversion,True
43683,Leriche syndrome,True
43723,Monteggia's fracture,True
43759,abdominal ectopic pregnancy,True
43762,tubal pregnancy,True
43765,presbycusis,True
43775,respiratory paralysis,True
43777,rhinophyma,False
43783,sclerema neonatorum,True
43836,"tuberculosis, spinal",True
43862,voice disorders,True
43892,prosthesis-related infectious disease,True
43895,ankle injury,True
43904,"leishmaniasis, diffuse cutaneous",True
43959,pseudolymphoma,True
43982,cubital tunnel syndrome,True
43988,zoster sine herpete,True
43994,acute cholecystitis,True
44001,"hearing loss, mixed conductive-sensorineural",True
44014,postpartum thyroiditis,True
44037,livedo reticularis,True
44079,cardio-renal syndrome,True
44092,collagenous sprue,True
44098,ovarian ectopic pregnancy,True
44101,"pregnancy, cornual",True
44113,bullous systemic lupus erythematosus,True
44138,hyalitis,False
44141_44144,panic disorder without or with agoraphobia,True
44333,alcohol-induced Wernicke-Korsakoff's syndrome,True
44342,thoracic disc degenerative disorder,True
44343,cervical disc degenerative disorder,True
44344,Schistosoma japonicum infectious disease,True
44351,Schistosoma intercalatum infectious disease,True
44355,isolated sternocostoclavicular hyperostosis,True
44406,arthrogryposis-ectodermal dysplasia-other anomalies syndrome,True
44617,X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome,True
44619,propylthiouracil embryofetopathy,True
44622,EMILIN-1-related connective tissue disease,True
44624,pediatric collagenous gastritis,True
44626,female infertility due to oocyte meiotic arrest,True
44627,acute macular neuroretinopathy,True
44629,congenital amyoplasia,True
44631,early-onset familial noncirrhotic portal hypertension,True
44632,extracranial carotid artery aneurysm,True
44633,idiopathic pleuroparenchymal fibroelastosis,True
44635,diaph1-related sensorineural hearing loss-thrombocytopenia syndrome,True
44642,c11orf73-related autosomal recessive hypomyelinating leukodystrophy,True
44644,congenital agenesis of the scrotum,True
44645,familial monosomy 7 syndrome,True
44647,kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome,True
44649,omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome,True
44656,epidermolytic nevus,True
44657,MME-related autosomal dominant Charcot Marie Tooth disease type 2,True
44675,LRP5-related primary osteoporosis,True
44682,MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome,True
44683,limbic encephalitis with neurexin-3 antibodies,True
44687,chronic relapsing inflammatory optic neuropathy,True
44688,isolated optic neuritis,True
44689,recurrent idiopathic neuroretinitis,True
44690,optic perineuritis,True
44709,cochleovestibular dysplasia,True
44715,metopic ridging-ptosis-facial dysmorphism syndrome,True
44717,4q25 proximal deletion syndrome,True
44727,pancreatic carcinoma with mixed differentiation,True
44739,Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome,True
44747,human anaplasmosis,True
44748,anaplasmosis in cattle,True
44753,lumbar spinal stenosis,True
44767,childhood adrenal gland pheochromocytoma,True
44768,vagus nerve paraganglioma,True
44783,solid papillary breast carcinoma,True
44785,desmoplastic melanoma,True
44786,solid pseudopapillary neoplasm of the pancreas,True
44788,perihilar intrahepatic cholangiocarcinoma,True
44791,combined hepatocellular carcinoma and cholangiocarcinoma,True
44795,epithelioid cell nevus,True
44796,spindle cell nevus,True
44797_44800,desmoplastic nevus,True
44874,refractory cytopenia of childhood,True
44876,drug hypersensitivity syndrome,True
44877,paraneoplastic cerebellar degeneration,True
44879,pancreatic mucinous-cystic neoplasm,True
44884,tonsillar lymphoma,True
44885,tonsillar lipoma,True
44889,high grade B-cell lymphoma,True
44907,metastatic squamous cell carcinoma,True
44912,metastatic malignant neoplasm in the spinal cord,True
44913,metastatic malignant neoplasm in the eye,True
44915,salivary duct carcinoma,True
44916,extrarenal rhabdoid tumor,True
44921,atypical lymphoproliferative disorder,True
44923,acute myeloid leukemia with mutated NPM1,True
44956,paranasal sinus mucoepidermoid carcinoma,True
44978,disease of cell nucleus,True
44982,drug pseudoallergy,True
44988,hip region disease,True
44997,midbrain disease,True
44998,carpal region disease,True
45023,acquired adrenogenital syndrome,True
45037,hyalohyphomycosis,True
45060,intraductal cribriform breast adenocarcinoma,True
45068,minor salivary gland adenoid cystic carcinoma,True
54866,sudden arrhythmia death syndrome,True
54867,paraomphalocele,True
54869,nondystrophic myotonia,True
56796,obstructive nephropathy,True
56805,benign peripheral nerve granular cell tumor,True
56813,hormone-resistant breast carcinoma,True
56814,hormone-resistant prostate carcinoma,True
56817,rectal adenosquamous carcinoma,True
56818,skin adenosquamous carcinoma,True
56821,bronchiolitis obliterans organizing pneumonia,True
60593,actn3 deficiency,True
60688,"hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency",True
60690,phenytoin toxicity,True
60768,gingival fibroepithelial polyp,True
60774,vaginal fibroepithelial polyp,True
60777,cervical fibroepithelial polyp,True
60781,Preeyasombat-Varavithya syndrome,True
100001,alpha-gal syndrome,True
100002,food protein-induced allergic proctocolitis,True
100005,primary mast cell activation syndrome,True
100006,secondary mast cell activation syndrome,True
100008,food protein-induced enterocolitis syndrome,True
100011,tendinosis,False
100013,paratenonitis with tendinosis,True
100015,adult-onset segmental dystonia,True
100019,ECHS1-related paroxysmal dyskinesia,True
100020,atypical childhood epilepsy with centrotemporal spikes,True
100021,photosensitive occipital lobe epilepsy,True
100023_100024,self-limited familial and non-familial neonatal/infantile seizures,True
100025,epilepsy of infancy with migrating focal seizures,True
100026,myoclonic encephalopathy in non-progressive disorder,True
100027,"febrile seizures plus, genetic epilepsy with febrile seizures plus",True
100031,adolescent/adult onset autosomal dominant epilepsy with auditory features,True
100034,cerebral folate deficiency,True
100035,structural epilepsy,True
100051,idiopathic mast cell activation syndrome,True
100052,acetazolamide-responsive hereditary episodic ataxia,True
100054,idiopathic anaphylaxis,True
100057,food-dependent exercise-induced anaphylaxis,True
100059,hypereosinophilia of undetermined significance,True
100061,PRPS1 deficiency disorder,True
100063,Pericytoma with t(7;12),True
100065,TH-deficient infantile parkinsonism and motor delay,True
100066,TH-deficient progressive infantile encephalopathy,True
100068,SLC10A7-CDG,True
100069,hearing impairment and infertile male syndrome,True
100071,cardiocutaneous syndrome,True
100072,"neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts",True
100073,methicillin-resistant staphylococcus aureus infectious disease,True
100074,norovirus infectious disease,True
100075,jaw fracture,True
100085,cancer of long bone of upper limb,True
100094,cannabinoid hyperemesis syndrome,True
100106,neonatal epileptic encephalopathy,True
100107,non-neonatal early infantile epileptic encephalopathy,True
100110,adenovirus renal infection,True
100112,ACBD5 deficiency,True
100113,hearing loss with skin disease,True
100115,acute flaccid myelitis,True
100116,Middle East respiratory syndrome,True
100125,hallucinogen-persisting perception disorder,True
100128,coinfection,True
100132,intrahepatic bile duct adenosquamous carcinoma,True
100138,X-linked recessive mitochondrial myopathy,True
100144,Uner Tan Syndrome,True
100160,alcoholic ketoacidosis,True
100161,hyperkalemic renal tubular acidosis,True
100163,COVID-19–associated multisystem inflammatory syndrome in children,True
100176,AP-4 deficiency syndrome,True
100185,immune reconstitution inflammatory syndrome,True
100188,combined ApoA-I and ApoC-III deficiency,True
100194,pregnancy associated osteoporosis,True
100222,A20 haploinsufficiency,True
100230,fatty acyl-CoA reductase 1 dysregulation,True
100233,long COVID-19,True
100286,respiratory syncytial virus bronchiolitis,True
100290,colon serrated polyposis,True
100291,early T cell progenitor acute lymphoblastic leukemia,True
100312,vestibular ataxia,True
100319,COVID-19–associated multisystem inflammatory syndrome in adults,True
200000,uterine ligament adenosarcoma,True
300000,SSR3-CDG,False
400000,small intestinal bacterial overgrowth,True
400002,calcium-alkali syndrome,True
400003,skeletal fluorosis,True
400004,phrynoderma,True
400005,refeeding syndrome,True