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-DOID:0060060,OMIM:605027 -DOID:0050882,OMIM:600224 -DOID:11353,OMIM:109820 -DOID:0050552,OMIM:190351 -DOID:9273,OMIM:215700 -DOID:1442,OMIM:203700 -DOID:0080026,OMIM:215150 -DOID:0050559,OMIM:253800 -DOID:0050724,OMIM:614023 -DOID:11722,OMIM:160900 -DOID:0050678,OMIM:186580 -DOID:0050638,OMIM:105210 -DOID:5520,OMIM:275355 -DOID:0050657,OMIM:153480 -DOID:705,OMIM:535000 -DOID:4624,OMIM:166000 -DOID:3649,OMIM:312170 -DOID:11342,OMIM:107800 -DOID:9212,OMIM:173200 -DOID:13374,OMIM:135100 -DOID:0050637,OMIM:105120 -DOID:3210,OMIM:312080 -DOID:14261,OMIM:300624 -DOID:13269,OMIM:121300 -DOID:0050556,OMIM:271245 -DOID:5572,OMIM:130650 -DOID:0050601,OMIM:103285 -DOID:3534,OMIM:254780 -DOID:0050587,OMIM:613229 -DOID:0050603,OMIM:200500 -DOID:4795,OMIM:272750 -DOID:8997,OMIM:263300 -DOID:2732,OMIM:268400 -DOID:10915,OMIM:277730 -DOID:12134,OMIM:134500 -DOID:1595,OMIM:608516 -DOID:0050833,OMIM:258900 -DOID:14250,OMIM:190685 -DOID:12169,OMIM:115430 -DOID:3890,OMIM:176000 -DOID:12704,OMIM:208900 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-DOID:893,OMIM:277900 -DOID:0060161,OMIM:313200 -DOID:3320,OMIM:272800 -DOID:13482,OMIM:176920 -DOID:0050156,OMIM:178500 -DOID:0060162,OMIM:125370 -DOID:4674,OMIM:300068 -DOID:2156,OMIM:603737 -DOID:0050662,OMIM:611809 -DOID:8552,OMIM:608232 -DOID:4603,OMIM:113800 -DOID:14762,OMIM:186400 -DOID:0050716,OMIM:277410 -DOID:14227,OMIM:415000 -DOID:0050530,OMIM:253550 -DOID:14723,OMIM:203750 -DOID:12707,OMIM:213400 -DOID:4346,OMIM:176200 -DOID:14757,OMIM:130020 -DOID:6457,OMIM:158350 -DOID:3783,OMIM:303600 -DOID:0050759,OMIM:602668 -DOID:3413,OMIM:248500 -DOID:0050694,OMIM:211530 -DOID:0080021,OMIM:156500 -DOID:0050554,OMIM:301310 -DOID:8584,OMIM:113970 -DOID:6419,OMIM:187500 -DOID:1837,OMIM:612227 -DOID:12305,OMIM:308300 -DOID:0050792,OMIM:600195 -DOID:1699,OMIM:242100 -DOID:0080030,OMIM:602111 -DOID:0050802,OMIM:615349 -DOID:1485,OMIM:219700 -DOID:0050558,OMIM:254090 -DOID:1925,OMIM:135900 -DOID:2452,OMIM:188050 +baseClass,baseLabel,equivalentClass,equivalentLabel +DOID:0050764,Armfield syndrome,OMIM:300261,Armfield X-Linked Mental Retardation Syndrome +DOID:1386,abetalipoproteinemia,OMIM:200100,Abetalipoproteinemia +DOID:13223,uterine fibroid,OMIM:150699,"Leiomyoma, Uterine" +DOID:4257,Caffey disease,OMIM:114000,Caffey Disease +DOID:980,choroidal sclerosis,OMIM:215500,"Choroidal Dystrophy, Central Areolar 1" +DOID:0050472,monilethrix,OMIM:158000,Monilethrix +DOID:12387,nephrogenic diabetes insipidus,OMIM:304800,"Diabetes Insipidus, Nephrogenic, X-Linked" +DOID:5325,Roberts syndrome,OMIM:268300,Roberts Syndrome +DOID:9280,carbamoyl phosphate synthetase I deficiency disease,OMIM:237300,"Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To" +DOID:0050600,ABCD syndrome,OMIM:600501,Abcd Syndrome +DOID:5374,pilomatrixoma,OMIM:132600,Pilomatrixoma +DOID:0080028,"spondyloepimetaphyseal dysplasia, Strudwick type",OMIM:184250,"Spondyloepimetaphyseal Dysplasia, Strudwick Type" +DOID:3762,cytochrome-c oxidase deficiency disease,OMIM:220110,Mitochondrial Complex Iv Deficiency +DOID:0050474,Netherton syndrome,OMIM:256500,Netherton Syndrome +DOID:699,mitochondrial myopathy,OMIM:251900,Mitochondrial Myopathy +DOID:0050880,Koolen de Vries syndrome,OMIM:610443,Koolen-De Vries Syndrome +DOID:0060067,Pearson syndrome,OMIM:557000,Pearson Marrow-Pancreas Syndrome +DOID:2739,Gilbert syndrome,OMIM:143500,Gilbert Syndrome +DOID:8757,gastric mucosal hypertrophy,OMIM:137280,"Gastritis, Familial Giant Hypertrophic" +DOID:678,progressive supranuclear palsy,OMIM:601104,"Supranuclear Palsy, Progressive, 1" +DOID:0060207,amyotrophic lateral sclerosis type 16,OMIM:614373,"Amyotrophic Lateral Sclerosis 16, Juvenile" +DOID:9074,systemic lupus erythematosus,OMIM:152700,Systemic Lupus Erythematosus +DOID:8534,gastroesophageal reflux disease,OMIM:109350,Gastroesophageal Reflux +DOID:9248,Pallister-Hall syndrome,OMIM:146510,Pallister-Hall Syndrome +DOID:8446,intussusception,OMIM:147710,Intussusception +DOID:2538,Landau-Kleffner syndrome,OMIM:245570,"Epilepsy, Focal, With Speech Disorder And With Or Without Mental Retardation" +DOID:5684,"spondyloepimetaphyseal dysplasia, Sponastrime type",OMIM:271510,"Spondyloepimetaphyseal Dysplasia, Sponastrime Type" +DOID:14773,cartilage-hair hypoplasia,OMIM:250250,Cartilage-Hair Hypoplasia +DOID:2951,motion sickness,OMIM:158280,Motion Sickness +DOID:14179,Bruton-type agammaglobulinemia,OMIM:300755,"Agammaglobulinemia, X-Linked" +DOID:12800,mucopolysaccharidosis VI,OMIM:253200,Mucopolysaccharidosis Type Vi +DOID:1702,ichthyosis vulgaris,OMIM:146700,Ichthyosis Vulgaris +DOID:13381,pernicious anemia,OMIM:170900,Pernicious Anemia +DOID:9266,cystinuria,OMIM:220100,Cystinuria +DOID:6406,double outlet right ventricle,OMIM:217095,Conotruncal Heart Malformations +DOID:0050800,creatine transporter deficiency,OMIM:300352,Cerebral Creatine Deficiency Syndrome 1 +DOID:8632,Kaposi's sarcoma,OMIM:148000,"Kaposi Sarcoma, Susceptibility To" +DOID:799,varicose veins,OMIM:192200,Varicose Veins +DOID:0050654,Baller-Gerold syndrome,OMIM:218600,Baller-Gerold Syndrome +DOID:11870,Pick's disease,OMIM:172700,Pick Disease Of Brain +DOID:0060065,pyridoxine-refractory autosomal recessive sideroblastic anemia,OMIM:205950,"Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive" +DOID:0050536,SC phocomelia syndrome,OMIM:269000,Sc Phocomelia Syndrome +DOID:1700,X-linked ichthyosis,OMIM:308100,"Ichthyosis, X-Linked" +DOID:2960,photosensitive trichothiodystrophy,OMIM:601675,"Trichothiodystrophy, Photosensitive" +DOID:0050741,alcohol dependence,OMIM:103780,Alcohol Dependence +DOID:4400,dermatosis papulosa nigra,OMIM:125600,Dermatosis Papulosa Nigra +DOID:0050831,familial encephalopathy with neuroserpin inclusion bodies,OMIM:604218,"Encephalopathy, Familial, With Neuroserpin Inclusion Bodies" +DOID:718,autoimmune hemolytic anemia,OMIM:205700,"Anemia, Autoimmune Hemolytic" +DOID:8970,subacute sclerosing panencephalitis,OMIM:260470,"Panencephalitis, Subacute Sclerosing" +DOID:0050636,familial visceral amyloidosis,OMIM:105200,"Amyloidosis, Familial Visceral" +DOID:2339,Crouzon syndrome,OMIM:123500,Crouzon Syndrome +DOID:7765,Coats disease,OMIM:300216,Coats Disease +DOID:9270,alkaptonuria,OMIM:203500,Alkaptonuria +DOID:9268,glycine encephalopathy,OMIM:605899,Glycine Encephalopathy +DOID:0050727,tyrosinemia type III,OMIM:276710,"Tyrosinemia, Type Iii" +DOID:1388,Tangier disease,OMIM:205400,Tangier Disease +DOID:0060205,amyotrophic lateral sclerosis type 14,OMIM:613954,"Amyotrophic Lateral Sclerosis 14, With Or Without Frontotemporal Dementia" +DOID:0050602,triple-A syndrome,OMIM:231550,Achalasia-Addisonianism-Alacrima Syndrome +DOID:0050645,arterial tortuosity syndrome,OMIM:208050,Arterial Tortuosity Syndrome +DOID:585,nephrolithiasis,OMIM:167030,"Nephrolithiasis, Calcium Oxalate" +DOID:3070,malignant glioma,OMIM:137800,Glioma Susceptibility 1 +DOID:14501,Sjogren-Larsson syndrome,OMIM:270200,Sjogren-Larsson Syndrome +DOID:9821,choroideremia,OMIM:303100,Choroideremia +DOID:14683,Binder syndrome,OMIM:155050,"Maxillonasal Dysplasia, Binder Type" +DOID:0050902,medulloblastoma,OMIM:155255,Medulloblastoma +DOID:14789,spondyloepiphyseal dysplasia congenita,OMIM:183900,Spondyloepiphyseal Dysplasia Congenita +DOID:5812,MHC class II deficiency,OMIM:209920,"Bare Lymphocyte Syndrome, Type Ii" +DOID:7148,rheumatoid arthritis,OMIM:180300,Rheumatoid Arthritis +DOID:0050689,brachydactyly-syndactyly syndrome,OMIM:610713,Brachydactyly-Syndactyly Syndrome +DOID:1949,cholecystitis,OMIM:600803,Gallbladder Disease 1 +DOID:0050681,Borjeson-Forssman-Lehmann syndrome,OMIM:301900,Borjeson-Forssman-Lehmann Syndrome +DOID:0050885,IMAGe syndrome,OMIM:614732,"Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies" +DOID:0050879,fragile X-associated tremor/ataxia syndrome,OMIM:300623,Fragile X Tremor/Ataxia Syndrome +DOID:0060208,amyotrophic lateral sclerosis type 17,OMIM:614696,Amyotrophic Lateral Sclerosis 17 +DOID:2893,cervix carcinoma,OMIM:603956,Cervical Cancer +DOID:1064,cystinosis,OMIM:219800,"Cystinosis, Nephropathic" +DOID:11975,coloboma of optic nerve,OMIM:120430,Coloboma Of Optic Nerve +DOID:11198,DiGeorge syndrome,OMIM:188400,Digeorge Syndrome +DOID:12376,juvenile spinal muscular atrophy,OMIM:253400,"Spinal Muscular Atrophy, Type Iii" +DOID:13357,chondromalacia patellae,OMIM:168900,"Patella, Chondromalacia Of" +DOID:9352,type 2 diabetes mellitus,OMIM:125853,"Diabetes Mellitus, Noninsulin-Dependent" +DOID:0060009,MHC class I deficiency,OMIM:604571,"Bare Lymphocyte Syndrome, Type I" +DOID:9164,achalasia,OMIM:200400,"Achalasia, Familial Esophageal" +DOID:5419,schizophrenia,OMIM:181500,Schizophrenia +DOID:4239,alveolar soft part sarcoma,OMIM:606243,Alveolar Soft Part Sarcoma +DOID:13809,familial combined hyperlipidemia,OMIM:144250,"Hyperlipidemia, Familial Combined" +DOID:0050430,Sipple syndrome,OMIM:171400,"Multiple Endocrine Neoplasia, Type Iia" +DOID:3132,porphyria cutanea tarda,OMIM:176100,Porphyria Cutanea Tarda +DOID:12132,Wegener's granulomatosis,OMIM:608710,Wegener Granulomatosis +DOID:12271,aniridia,OMIM:106210,Aniridia +DOID:4022,ureterocele,OMIM:191650,Ureterocele +DOID:9970,obesity,OMIM:601665,Obesity +DOID:14766,renal agenesis,OMIM:191830,Renal Hypodysplasia/Aplasia 1 +DOID:12799,mucopolysaccharidosis II,OMIM:309900,"Mucopolysaccharidosis, Type Ii" +DOID:0050659,biotin-responsive basal ganglia disease,OMIM:607483,Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) +DOID:14720,type I Ehlers-Danlos syndrome,OMIM:130000,"Ehlers-Danlos Syndrome, Type I" +DOID:12603,acute leukemia,OMIM:308960,"Leukemia, Acute, ?X-Linked" +DOID:3981,pantothenate kinase-associated neurodegeneration,OMIM:234200,Neurodegeneration With Brain Iron Accumulation 1 +DOID:0050715,methylmalonic aciduria and homocystinuria type cblC,OMIM:277400,"Methylmalonic Aciduria And Homocystinuria, Cblc Type" +DOID:2394,ovarian cancer,OMIM:167000,Ovarian Cancer +DOID:0050450,Gitelman syndrome,OMIM:263800,Gitelman Syndrome +DOID:3911,progeria,OMIM:176670,Hutchinson-Gilford Progeria Syndrome +DOID:0050679,blue cone monochromacy,OMIM:303700,Blue Cone Monochromacy +DOID:3310,atopic dermatitis,OMIM:603165,"Dermatitis, Atopic" +DOID:0060197,amyotrophic lateral sclerosis type 5,OMIM:602099,Amyotrophic Lateral Sclerosis 5 +DOID:3652,Leigh disease,OMIM:256000,Leigh Syndrome +DOID:0050605,acrodermatitis enteropathica,OMIM:201100,"Acrodermatitis Enteropathica, Zinc-Deficiency Type" +DOID:11819,ureter cancer,OMIM:191600,"Ureter, Cancer Of" +DOID:13375,temporal arteritis,OMIM:187360,Temporal Arteritis +DOID:5688,Werner syndrome,OMIM:277700,Werner Syndrome +DOID:0050634,alopecia universalis,OMIM:203655,Alopecia Universalis Congenita +DOID:0050799,guanidinoacetate methyltransferase deficiency,OMIM:612736,Cerebral Creatine Deficiency Syndrome 2 +DOID:11589,Riley-Day syndrome,OMIM:223900,"Neuropathy, Hereditary Sensory And Autonomic, Type Iii" +DOID:12842,Guillain-Barre syndrome,OMIM:139393,"Guillain-Barre Syndrome, Familial" +DOID:0050791,persistent mullerian duct syndrome,OMIM:261550,"Persistent Mullerian Duct Syndrome, Types I And Ii" +DOID:2926,Klippel-Trenaunay syndrome,OMIM:149000,Klippel-Trenaunay-Weber Syndrome +DOID:12117,pulmonary alveolar microlithiasis,OMIM:265100,Pulmonary Alveolar Microlithiasis +DOID:0050813,spondyloepiphyseal dysplasia with congenital joint dislocations,OMIM:143095,Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations +DOID:0060021,DNA ligase IV deficiency,OMIM:606593,Lig4 Syndrome +DOID:2785,Dandy-Walker syndrome,OMIM:220200,Dandy-Walker Syndrome +DOID:14743,trichorhinophalangeal syndrome type I,OMIM:190350,"Trichorhinophalangeal Syndrome, Type I" +DOID:14756,autosomal dominant type IV Ehlers-Danlos syndrome,OMIM:130050,"Ehlers-Danlos Syndrome, Type Iv, Autosomal Dominant" +DOID:8691,mycosis fungoides,OMIM:254400,Mycosis Fungoides +DOID:2796,desquamative interstitial pneumonia,OMIM:263000,"Interstitial Pneumonitis, Desquamative, Familial" +DOID:11634,myxedema,OMIM:255900,Myxedema +DOID:13042,persistent fetal circulation syndrome,OMIM:265380,Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins +DOID:11119,Gilles de la Tourette syndrome,OMIM:137580,Gilles De La Tourette Syndrome +DOID:14768,Saethre-Chotzen syndrome,OMIM:101400,Saethre-Chotzen Syndrome +DOID:4905,pancreatic carcinoma,OMIM:260350,Pancreatic Cancer +DOID:14737,craniofrontonasal syndrome,OMIM:304110,Craniofrontonasal Syndrome +DOID:1790,malignant mesothelioma,OMIM:156240,"Mesothelioma, Malignant" +DOID:0050692,Brody myopathy,OMIM:601003,Brody Myopathy +DOID:13137,Werdnig-Hoffmann disease,OMIM:253300,"Spinal Muscular Atrophy, Type I" +DOID:0050467,erythrokeratodermia variabilis,OMIM:133200,Erythrokeratodermia Variabilis Et Progressiva +DOID:4501,orofaciodigital syndrome,OMIM:311200,Orofaciodigital Syndrome I +DOID:3261,Job's syndrome,OMIM:147060,"Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant" +DOID:0050809,mucopolysaccharidosis IX,OMIM:601492,"Mucopolysaccharidosis, Type Ix" +DOID:14725,autosomal dominant microcephaly,OMIM:156580,"Microcephaly, Autosomal Dominant" +DOID:5453,pulmonary venoocclusive disease,OMIM:265450,"Pulmonary Venoocclusive Disease 1, Autosomal Dominant" +DOID:2729,dyskeratosis congenita,OMIM:305000,"Dyskeratosis Congenita, X-Linked" +DOID:905,Zellweger syndrome,OMIM:214100,Peroxisome Biogenesis Disorder 1a (Zellweger) +DOID:437,myasthenia gravis,OMIM:254200,Myasthenia Gravis +DOID:2512,nevoid basal cell carcinoma syndrome,OMIM:109400,Basal Cell Nevus Syndrome +DOID:9253,gastrointestinal stromal tumor,OMIM:606764,Gastrointestinal Stromal Tumor +DOID:0050711,aceruloplasminemia,OMIM:604290,Aceruloplasminemia +DOID:4258,Weissenbacher-Zweymüller syndrome,OMIM:261800,Pierre Robin Syndrome +DOID:0050807,Kahrizi syndrome,OMIM:612713,Kahrizi Syndrome +DOID:0050723,PSAT deficiency,OMIM:610992,Phosphoserine Aminotransferase Deficiency +DOID:9631,Pelger-Huet anomaly,OMIM:169400,Pelger-Huet Anomaly +DOID:9822,partial central choroid dystrophy,OMIM:613105,"Choroidal Dystrophy, Central Areolar 2" +DOID:3651,pyruvate carboxylase deficiency disease,OMIM:266150,Pyruvate Carboxylase Deficiency +DOID:11383,cryptorchidism,OMIM:219050,"Cryptorchidism, Unilateral Or Bilateral" +DOID:11105,fundus albipunctatus,OMIM:136880,Fundus Albipunctatus +DOID:2736,Hajdu-Cheney syndrome,OMIM:102500,Hajdu-Cheney Syndrome +DOID:3369,peripheral primitive neuroectodermal tumor,OMIM:612219,Ewing Sarcoma +DOID:0080056,achondrogenesis type II,OMIM:200610,"Achondrogenesis, Type Ii" +DOID:0080053,Albright's hereditary osteodystrophy,OMIM:103580,"Pseudohypoparathyroidism, Type Ia" +DOID:2508,Takayasu's arteritis,OMIM:207600,Takayasu Arteritis +DOID:14283,primary hypertrophic osteoarthropathy,OMIM:259100,"Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1" +DOID:9467,nail-patella syndrome,OMIM:161200,Nail-Patella Syndrome +DOID:9827,radioulnar synostosis,OMIM:179300,Radioulnar Synostosis +DOID:384,Wolff-Parkinson-White syndrome,OMIM:194200,Wolff-Parkinson-White Syndrome +DOID:0050546,congenital adrenal insufficiency,OMIM:613743,"Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete" +DOID:701,dentin dysplasia,OMIM:125420,"Dentin Dysplasia, Type Ii" +DOID:0050429,Hailey-Hailey disease,OMIM:169600,Benign Chronic Pemphigus +DOID:0050769,N syndrome,OMIM:310465,N Syndrome +DOID:12661,tooth ankylosis,OMIM:157950,"Permanent Molars, Secondary Retention Of" +DOID:0050631,Allan-Herndon-Dudley syndrome,OMIM:300523,Allan-Herndon-Dudley Syndrome +DOID:0050752,amyotrophic lateral sclerosis type 8,OMIM:608627,Amyotrophic Lateral Sclerosis 8 +DOID:9849,Meniere's disease,OMIM:156000,Meniere Disease +DOID:3347,osteosarcoma,OMIM:259500,Osteogenic Sarcoma +DOID:10122,hyperpigmentation of eyelid,OMIM:145100,Hyperpigmentation Of Eyelids +DOID:1440,Machado-Joseph disease,OMIM:109150,Machado-Joseph Disease +DOID:7400,Nijmegen breakage syndrome,OMIM:251260,Nijmegen Breakage Syndrome +DOID:14701,propionic acidemia,OMIM:606054,Propionic Acidemia +DOID:4051,alveolar rhabdomyosarcoma,OMIM:268220,Rhabdomyosarcoma 2 +DOID:0050788,proximal symphalangism,OMIM:185800,"Symphalangism, Proximal, 1a" +DOID:13372,alpha 1-antitrypsin deficiency,OMIM:613490,Alpha-1-Antitrypsin Deficiency +DOID:14681,Silver-Russell syndrome,OMIM:180860,Silver-Russell Syndrome +DOID:11044,gastroschisis,OMIM:230750,Gastroschisis +DOID:9955,hypoplastic left heart syndrome,OMIM:241550,Hypoplastic Left Heart Syndrome 1 +DOID:14755,argininosuccinic aciduria,OMIM:207900,Argininosuccinic Aciduria +DOID:10587,Krabbe disease,OMIM:245200,Krabbe Disease +DOID:2988,antiphospholipid syndrome,OMIM:107320,"Antiphospholipid Syndrome, Familial" +DOID:5339,cyclic hematopoiesis,OMIM:162800,Cyclic Neutropenia +DOID:0050547,familial medullary thyroid carcinoma,OMIM:155240,"Thyroid Carcinoma, Familial Medullary" +DOID:11661,blue color blindness,OMIM:190900,Tritanopia +DOID:0050663,Bethlem myopathy,OMIM:158810,Bethlem Myopathy +DOID:0080054,achondrogenesis type IA,OMIM:200600,"Achondrogenesis, Type Ia" +DOID:12308,Dubin-Johnson syndrome,OMIM:237500,Dubin-Johnson Syndrome +DOID:1060,Hartnup disease,OMIM:234500,Hartnup Disorder +DOID:856,biotinidase deficiency,OMIM:253260,Biotinidase Deficiency +DOID:12858,Huntington's disease,OMIM:143100,Huntington Disease +DOID:0050812,"spondyloepimetaphyseal dysplasia, Pakistani type",OMIM:612847,Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes +DOID:0050693,Brooke-Spiegler syndrome,OMIM:605041,Brooke-Spiegler Syndrome +DOID:743,dermatographia,OMIM:125635,"Dermographism, Familial" +DOID:5327,retinal detachment,OMIM:312530,Retinal Detachment +DOID:11949,Creutzfeldt-Jakob disease,OMIM:123400,Creutzfeldt-Jakob Disease +DOID:0050848,obstructive sleep apnea,OMIM:107650,"Apnea, Obstructive Sleep" +DOID:0050664,Bietti crystalline corneoretinal dystrophy,OMIM:210370,Bietti Crystalline Corneoretinal Dystrophy +DOID:0050858,Marshall-Smith syndrome,OMIM:602535,Marshall-Smith Syndrome +DOID:0050676,Birt-Hogg-Dube syndrome,OMIM:135150,Birt-Hogg-Dube Syndrome +DOID:4534,Hallermann-Streiff syndrome,OMIM:234100,Hallermann-Streiff Syndrome +DOID:14451,hyperkalemic periodic paralysis,OMIM:170500,Hyperkalemic Periodic Paralysis +DOID:8864,acute monocytic leukemia,OMIM:151380,"Leukemia, Acute Monocytic" +DOID:0060210,amyotrophic lateral sclerosis type 19,OMIM:615515,Amyotrophic Lateral Sclerosis 19 +DOID:6678,tooth and nail syndrome,OMIM:189500,Witkop Syndrome +DOID:8567,Hodgkin's lymphoma,OMIM:236000,"Lymphoma, Hodgkin" +DOID:0060174,GABA aminotransferase deficiency,OMIM:613163,Gaba-Transaminase Deficiency +DOID:988,mitral valve prolapse,OMIM:157700,"Mitral Valve Prolapse, Familial" +DOID:12960,acrocephalosyndactylia,OMIM:101200,Apert Syndrome +DOID:2154,nephroblastoma,OMIM:194070,Wilms Tumor 1 +DOID:2935,Chediak-Higashi syndrome,OMIM:214500,Chediak-Higashi Syndrome +DOID:0080050,"acromesomelic dysplasia, Maroteaux type",OMIM:602875,"Acromesomelic Dysplasia, Maroteaux Type" +DOID:4297,scimitar syndrome,OMIM:106700,Total Anomalous Pulmonary Venous Return 1 +DOID:9255,frontotemporal dementia,OMIM:600274,Frontotemporal Dementia +DOID:9432,renal glycosuria,OMIM:233100,Renal Glucosuria +DOID:2569,retinal drusen,OMIM:126700,Basal Laminar Drusen +DOID:13096,Sneddon syndrome,OMIM:182410,Sneddon Syndrome +DOID:0050438,Frasier syndrome,OMIM:136680,Frasier Syndrome +DOID:0080047,pseudoachondroplasia,OMIM:177170,Pseudoachondroplasia +DOID:3343,mucolipidosis,OMIM:252650,Mucolipidosis Iv +DOID:6498,seborrheic keratosis,OMIM:182000,"Keratosis, Seborrheic" +DOID:11054,urinary bladder cancer,OMIM:109800,Bladder Cancer +DOID:0050473,Alstrom syndrome,OMIM:203800,Alstrom Syndrome +DOID:12961,Poland syndrome,OMIM:173800,Poland Syndrome +DOID:452,pleomorphic adenoma,OMIM:181030,"Salivary Gland Adenoma, Pleomorphic" +DOID:0050789,tarsal-carpal coalition syndrome,OMIM:186570,Tarsal-Carpal Coalition Syndrome +DOID:4998,trichorhinophalangeal syndrome type II,OMIM:150230,"Trichorhinophalangeal Syndrome, Type Ii" +DOID:0050775,schneckenbecken dysplasia,OMIM:269250,Schneckenbecken Dysplasia +DOID:0050757,deafness dystonia syndrome,OMIM:304700,Mohr-Tranebjaerg Syndrome +DOID:14695,galactokinase deficiency,OMIM:230200,Galactokinase Deficiency +DOID:10016,Wagenmann-Froboese syndrome,OMIM:162300,"Multiple Endocrine Neoplasia, Type Iib" +DOID:0050797,peroxisomal acyl-CoA oxidase deficiency,OMIM:264470,Peroxisomal Acyl-Coa Oxidase Deficiency +DOID:11836,clubfoot,OMIM:119800,"Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly" +DOID:3613,Canavan disease,OMIM:271900,Canavan Disease +DOID:3748,esophagus squamous cell carcinoma,OMIM:133239,Esophageal Cancer +DOID:11156,anhidrosis,OMIM:206600,Anhidrosis +DOID:0050680,Boomerang dysplasia,OMIM:112310,Boomerang Dysplasia +DOID:9808,Goodpasture syndrome,OMIM:233450,Goodpasture Syndrome +DOID:10604,lactose intolerance,OMIM:223100,"Lactose Intolerance, Adult Type" +DOID:84,osteochondritis dissecans,OMIM:165800,"Osteochondritis Dissecans, Short Stature, And Early-Onset Osteoarthritis" +DOID:11164,band keratopathy,OMIM:217500,"Corneal Dystrophy, Band-Shaped" +DOID:0050712,AGAT deficiency,OMIM:612718,Cerebral Creatine Deficiency Syndrome 3 +DOID:14780,KBG syndrome,OMIM:148050,Kbg Syndrome +DOID:0050630,Aland Island eye disease,OMIM:300600,Aland Island Eye Disease +DOID:0060013,gamma chain deficiency,OMIM:300400,"Severe Combined Immunodeficiency, X-Linked" +DOID:14687,diastrophic dysplasia,OMIM:222600,Diastrophic Dysplasia +DOID:8461,Aicardi syndrome,OMIM:304050,Aicardi Syndrome +DOID:12306,vitiligo,OMIM:193200,Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 +DOID:4249,Gerstmann-Straussler-Scheinker syndrome,OMIM:137440,Gerstmann-Straussler Disease +DOID:9249,Beemer-Langer syndrome,OMIM:269860,Short-Rib Thoracic Dysplasia 12 +DOID:0060218,CREST syndrome,OMIM:181750,"Scleroderma, Familial Progressive" +DOID:11723,Duchenne muscular dystrophy,OMIM:310200,"Muscular Dystrophy, Duchenne Type" +DOID:0050734,congenital intrinsic factor deficiency,OMIM:261000,Intrinsic Factor Deficiency +DOID:13777,epidermodysplasia verruciformis,OMIM:226400,Epidermodysplasia Verruciformis +DOID:9007,sudden infant death syndrome,OMIM:272120,Sudden Infant Death Syndrome +DOID:4465,papillary renal cell carcinoma,OMIM:605074,"Renal Cell Carcinoma, Papillary, 1" +DOID:6496,extraskeletal myxoid chondrosarcoma,OMIM:612237,"Chondrosarcoma, Extraskeletal Myxoid" +DOID:0050682,Athabaskan brainstem dysgenesis syndrome,OMIM:601536,Athabaskan Brainstem Dysgenesis Syndrome +DOID:0050887,Townes-Brocks syndrome,OMIM:107480,Townes-Brocks Syndrome +DOID:5810,adenosine deaminase deficiency,OMIM:102700,"Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency" +DOID:14500,fucosidosis,OMIM:230000,Fucosidosis +DOID:3948,adrenocortical carcinoma,OMIM:202300,"Adrenocortical Carcinoma, Hereditary" +DOID:0060212,amyotrophic lateral sclerosis type 21,OMIM:606070,Amyotrophic Lateral Sclerosis 21 +DOID:9521,Laron syndrome,OMIM:262500,Laron Syndrome +DOID:9246,cerebral amyloid angiopathy,OMIM:605714,"Cerebral Amyloid Angiopathy, App-Related" +DOID:0050578,occult macular dystrophy,OMIM:613587,Occult Macular Dystrophy +DOID:321,tropical spastic paraparesis,OMIM:159580,"Myelopathy, Htlv-1-Associated" +DOID:11612,polycystic ovary syndrome,OMIM:184700,Polycystic Ovary Syndrome 1 +DOID:2734,keratosis follicularis,OMIM:124200,Darier-White Disease +DOID:3764,Denys-Drash syndrome,OMIM:194080,Denys-Drash Syndrome +DOID:5362,focal epithelial hyperplasia,OMIM:229045,"Focal Epithelial Hyperplasia, Oral" +DOID:1171,hyperlipoproteinemia type V,OMIM:144650,"Hyperlipoproteinemia, Type V" +DOID:12716,newborn respiratory distress syndrome,OMIM:267450,Respiratory Distress Syndrome In Premature Infants +DOID:560,jaw-winking syndrome,OMIM:154600,Marcus Gunn Phenomenon +DOID:14080,glucocorticoid-remediable aldosteronism,OMIM:103900,Glucocorticoid-Remediable Aldosteronism +DOID:14499,Fabry disease,OMIM:301500,Fabry Disease +DOID:6652,diffuse idiopathic skeletal hyperostosis,OMIM:106400,Ankylosing Vertebral Hyperostosis With Tylosis +DOID:3301,gonadoblastoma,OMIM:424500,Gonadoblastoma +DOID:11599,Frey Syndrome,OMIM:144100,"Hyperhidrosis, Gustatory" +DOID:4997,Camurati-Engelmann disease,OMIM:131300,Camurati-Engelmann Disease +DOID:13241,Behcet's disease,OMIM:109650,Behcet Syndrome +DOID:0050740,Qazi Markouizos syndrome,OMIM:600096,Puerto Rican Infant Hypotonia Syndrome +DOID:0050818,transcobalamin II deficiency,OMIM:275350,Transcobalamin Ii Deficiency +DOID:13724,scurvy,OMIM:240400,Hypoascorbemia +DOID:3803,Crigler-Najjar syndrome,OMIM:218800,"Crigler-Najjar Syndrome, Type I" +DOID:5409,lung small cell carcinoma,OMIM:182280,Small Cell Cancer Of The Lung +DOID:1572,normal pressure hydrocephalus,OMIM:236690,"Hydrocephalus, Normal-Pressure" +DOID:9281,phenylketonuria,OMIM:261600,Phenylketonuria +DOID:2235,prothrombin deficiency,OMIM:613679,"Prothrombin Deficiency, Congenital" +DOID:9487,Meckel's diverticulum,OMIM:155140,Meckel Diverticulum +DOID:0050641,Rh deficiency syndrome,OMIM:268150,"Rh-Null, Regulator Type" +DOID:0050529,adult spinal muscular atrophy,OMIM:271150,"Spinal Muscular Atrophy, Type Iv" +DOID:2129,atypical teratoid rhabdoid tumor,OMIM:609322,Rhabdoid Tumor Predisposition Syndrome 1 +DOID:0050458,juvenile myelomonocytic leukemia,OMIM:607785,Juvenile Myelomonocytic Leukemia +DOID:12803,Sly syndrome,OMIM:253220,"Mucopolysaccharidosis, Type Vii" +DOID:0050436,mulibrey nanism,OMIM:253250,Mulibrey Nanism +DOID:0050477,Liddle syndrome,OMIM:177200,Liddle Syndrome +DOID:0050787,juvenile polyposis syndrome,OMIM:174900,Juvenile Polyposis Syndrome +DOID:14116,multiple symmetric lipomatosis,OMIM:151800,"Lipomatosis, Multiple Symmetric" +DOID:1757,facial hemiatrophy,OMIM:141300,"Hemifacial Atrophy, Progressive" +DOID:13641,exfoliation syndrome,OMIM:177650,Exfoliation Syndrome +DOID:0050683,Bothnia retinal dystrophy,OMIM:607475,Bothnia Retinal Dystrophy +DOID:0050771,phaeochromocytoma,OMIM:171300,Pheochromocytoma +DOID:5425,ovarian hyperstimulation syndrome,OMIM:608115,Ovarian Hyperstimulation Syndrome +DOID:9538,multiple myeloma,OMIM:254500,"Myeloma, Multiple" +DOID:12714,Ellis-Van Creveld syndrome,OMIM:225500,Ellis-Van Creveld Syndrome +DOID:9269,maple syrup urine disease,OMIM:248600,Maple Syrup Urine Disease +DOID:12580,Cri-Du-Chat syndrome,OMIM:123450,Cri-Du-Chat Syndrome +DOID:0050433,fatal familial insomnia,OMIM:600072,Fatal Familial Insomnia +DOID:1838,Menkes disease,OMIM:309400,Menkes Disease +DOID:8538,reticulosarcoma,OMIM:267730,Reticulum Cell Sarcoma +DOID:0060020,reticular dysgenesis,OMIM:267500,Reticular Dysgenesis +DOID:2717,bloom syndrome,OMIM:210900,Bloom Syndrome +DOID:684,hepatocellular carcinoma,OMIM:114550,Hepatocellular Carcinoma +DOID:0050796,achalasia microcephaly syndrome,OMIM:200450,Achalasia-Microcephaly Syndrome +DOID:1172,hyperlipoproteinemia type IV,OMIM:144600,"Hyperlipoproteinemia, Type Iv" +DOID:0050729,neutral lipid storage disease,OMIM:275630,Chanarin-Dorfman Syndrome +DOID:9278,hyperargininemia,OMIM:207800,Argininemia +DOID:2012,Nezelof syndrome,OMIM:242700,Immune Defect Due To Absence Of Thymus +DOID:9271,ornithine carbamoyltransferase deficiency,OMIM:311250,"Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To" +DOID:14670,"hypertelorism, microtia, facial clefting syndrome",OMIM:239800,"Hypertelorism, Microtia, Facial Clefting Syndrome" +DOID:2986,IgA glomerulonephritis,OMIM:161950,"Iga Nephropathy, Susceptibility To, 1" +DOID:2871,endometrial carcinoma,OMIM:608089,Endometrial Cancer +DOID:4586,familial meningioma,OMIM:607174,"Meningioma, Familial, Susceptibility To" +DOID:2775,long bone adamantinoma,OMIM:102660,Adamantinoma Of Long Bones +DOID:13501,Mobius syndrome,OMIM:157900,Moebius Syndrome +DOID:4423,sea-blue histiocyte syndrome,OMIM:269600,Sea-Blue Histiocyte Disease +DOID:14753,isovaleric acidemia,OMIM:243500,Isovaleric Acidemia +DOID:2231,factor XII deficiency,OMIM:234000,Factor Xii Deficiency +DOID:0050469,Costello syndrome,OMIM:218040,Costello Syndrome +DOID:4253,melorheostosis,OMIM:155950,"Melorheostosis, Isolated" +DOID:14761,Greig cephalopolysyndactyly syndrome,OMIM:175700,Greig Cephalopolysyndactyly Syndrome +DOID:13832,patent ductus arteriosus,OMIM:607411,Patent Ductus Arteriosus +DOID:2987,familial Mediterranean fever,OMIM:249100,Familial Mediterranean Fever +DOID:2236,congenital afibrinogenemia,OMIM:202400,"Afibrinogenemia, Congenital" +DOID:0050419,complement factor I deficiency,OMIM:610984,Complement Factor I Deficiency +DOID:10017,Wermer syndrome,OMIM:131100,"Multiple Endocrine Neoplasia, Type I" +DOID:0050814,temtamy preaxial brachydactyly syndrome,OMIM:605282,Temtamy Preaxial Brachydactyly Syndrome +DOID:8616,Peyronie's disease,OMIM:171000,Peyronie Disease +DOID:2120,focal dermal hypoplasia,OMIM:305600,Focal Dermal Hypoplasia +DOID:10611,protein-losing enteropathy,OMIM:226300,"Enteropathy, Protein-Losing" +DOID:12559,idiopathic juvenile osteoporosis,OMIM:259750,"Osteoporosis, Juvenile" +DOID:0050643,anonychia congenita,OMIM:206800,"Nail Disorder, Nonsyndromic Congenital, 4" +DOID:12259,hemophilia B,OMIM:306900,Hemophilia B +DOID:2626,choroid plexus papilloma,OMIM:260500,Papilloma Of Choroid Plexus +DOID:0050691,branchiooculofacial syndrome,OMIM:113620,Branchiooculofacial Syndrome +DOID:5813,purine nucleoside phosphorylase deficiency,OMIM:613179,Purine Nucleoside Phosphorylase Deficiency +DOID:0060221,Maffucci syndrome,OMIM:614569,"Multiple Enchondromatosis, Maffucci Type" +DOID:859,holocarboxylase synthetase deficiency,OMIM:253270,Holocarboxylase Synthetase Deficiency +DOID:0050649,atransferrinemia,OMIM:209300,Atransferrinemia +DOID:11211,buphthalmos,OMIM:231300,"Glaucoma 3, Primary Congenital, A" +DOID:0050461,aspartylglucosaminuria,OMIM:208400,Aspartylglucosaminuria +DOID:0060209,amyotrophic lateral sclerosis type 18,OMIM:614808,Amyotrophic Lateral Sclerosis 18 +DOID:1761,Melkersson-Rosenthal syndrome,OMIM:155900,Melkersson-Rosenthal Syndrome +DOID:769,neuroblastoma,OMIM:256700,"Neuroblastoma, Susceptibility To" +DOID:4752,multiple system atrophy,OMIM:146500,"Multiple System Atrophy 1, Susceptibility To" +DOID:3315,lipoma,OMIM:151900,"Lipomatosis, Multiple" +DOID:1415,gyrate atrophy,OMIM:258870,Gyrate Atrophy Of Choroid And Retina +DOID:8158,complement component 5 deficiency,OMIM:609536,Complement Component 5 Deficiency +DOID:0050768,"mitochondrial complex V (ATP synthase) deficiency, nuclear type 1",OMIM:604273,"Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1" +DOID:8924,autoimmune thrombocytopenic purpura,OMIM:188030,"Thrombocytopenic Purpura, Autoimmune" +DOID:3633,beta-mannosidosis,OMIM:248510,"Mannosidosis, Beta A, Lysosomal" +DOID:0050647,Arts syndrome,OMIM:301835,Arts Syndrome +DOID:9261,nasopharynx carcinoma,OMIM:161550,"Nasopharyngeal Carcinoma, Susceptibility To, 2" +DOID:0050452,mevalonic aciduria,OMIM:610377,Mevalonic Aciduria +DOID:674,cleft palate,OMIM:119540,"Cleft Palate, Isolated" +DOID:14764,Larsen syndrome,OMIM:150250,Larsen Syndrome +DOID:0050574,L-2-hydroxyglutaric aciduria,OMIM:236792,L-2-Hydroxyglutaric Aciduria +DOID:6691,Aagenaes syndrome,OMIM:214900,Cholestasis-Lymphedema Syndrome +DOID:0050640,anauxetic dysplasia,OMIM:607095,Anauxetic Dysplasia +DOID:0060206,amyotrophic lateral sclerosis type 15,OMIM:300857,"Amyotrophic Lateral Sclerosis 15, With Or Without Frontotemporal Dementia" +DOID:2216,factor V deficiency,OMIM:227400,Factor V Deficiency +DOID:0050441,mucosulfatidosis,OMIM:272200,Multiple Sulfatase Deficiency +DOID:14796,Dubowitz Syndrome,OMIM:223370,Dubowitz Syndrome +DOID:0050726,tyrosinemia type I,OMIM:276700,"Tyrosinemia, Type I" +DOID:0050722,PHGDH deficiency,OMIM:601815,Phosphoglycerate Dehydrogenase Deficiency +DOID:14731,Weaver syndrome,OMIM:277590,Weaver Syndrome +DOID:0050579,glycogen storage disease XV,OMIM:613507,Glycogen Storage Disease Xv +DOID:7004,ACTH-secreting pituitary adenoma,OMIM:219090,"Pituitary Adenoma, Acth-Secreting" +DOID:1932,Angelman syndrome,OMIM:105830,Angelman Syndrome +DOID:0050465,Muir-Torre syndrome,OMIM:158320,Muir-Torre Syndrome +DOID:0050597,intestinal schistosomiasis,OMIM:181460,"Schistosoma Mansoni Infection, Susceptibility/Resistance To" +DOID:3827,congenital diaphragmatic hernia,OMIM:610187,Diaphragmatic Hernia 3 +DOID:310,MERRF syndrome,OMIM:545000,Myoclonic Epilepsy Associated With Ragged-Red Fibers +DOID:2229,factor XI deficiency,OMIM:612416,Factor Xi Deficiency +DOID:2861,congenital nonspherocytic hemolytic anemia,OMIM:613470,"Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency" +DOID:0050725,tyrosinemia type II,OMIM:276600,"Tyrosinemia, Type Ii" +DOID:13300,Scheuermann's disease,OMIM:181440,Scheuermann Disease +DOID:13366,Stiff-Person syndrome,OMIM:184850,Stiff-Person Syndrome +DOID:0050604,acrocapitofemoral dysplasia,OMIM:607778,Acrocapitofemoral Dysplasia +DOID:0050528,nonphotosensitive trichothiodystrophy,OMIM:234050,"Trichothiodystrophy, Nonphotosensitive 1" +DOID:0080055,achondrogenesis type IB,OMIM:600972,"Achondrogenesis, Type Ib" +DOID:3962,follicular thyroid carcinoma,OMIM:188470,"Thyroid Carcinoma, Follicular" +DOID:3529,central core myopathy,OMIM:117000,Central Core Disease Of Muscle +DOID:0050770,polycystic liver disease,OMIM:174050,Polycystic Liver Disease +DOID:2738,pseudoxanthoma elasticum,OMIM:264800,Pseudoxanthoma Elasticum +DOID:0050835,generalized dystonia,OMIM:128100,"Dystonia 1, Torsion, Autosomal Dominant" +DOID:633,myositis,OMIM:160750,Myositis +DOID:0050877,pancreatic agenesis,OMIM:260370,"Pancreatic Agenesis, Congenital" +DOID:4810,cerebrotendinous xanthomatosis,OMIM:213700,Cerebrotendinous Xanthomatosis +DOID:3535,Unverricht-Lundborg syndrome,OMIM:254800,Myoclonic Epilepsy Of Unverricht And Lundborg +DOID:0050468,yellow nail syndrome,OMIM:153300,Yellow Nail Syndrome +DOID:0050717,methylmalonic aciduria and homocystinuria type cblF,OMIM:277380,"Methylmalonic Aciduria And Homocystinuria, Cblf Type" +DOID:0060063,X-linked sideroblastic anemia,OMIM:300751,"Anemia, Sideroblastic, X-Linked" +DOID:11459,pseudotumor cerebri,OMIM:243200,"Intracranial Hypertension, Idiopathic" +DOID:12642,hiatus hernia,OMIM:142400,"Hernia, Hiatus" +DOID:12934,Kearns-Sayre syndrome,OMIM:530000,Kearns-Sayre Syndrome +DOID:0050867,Jensen syndrome,OMIM:311150,Opticoacoustic Nerve Atrophy With Dementia +DOID:6245,renal oncocytoma,OMIM:553000,Oncocytoma +DOID:11549,Adie syndrome,OMIM:103100,Adie Pupil +DOID:3389,Papillon-Lefevre disease,OMIM:245000,Papillon-Lefevre Syndrome +DOID:0050774,rapadilino syndrome,OMIM:266280,Rapadilino Syndrome +DOID:1391,Norum disease,OMIM:245900,Lecithin:Cholesterol Acyltransferase Deficiency +DOID:14694,Johanson-Blizzard syndrome,OMIM:243800,Johanson-Blizzard Syndrome +DOID:0050464,Farber lipogranulomatosis,OMIM:228000,Farber Lipogranulomatosis +DOID:11367,congenital aphakia,OMIM:610256,"Aphakia, Congenital Primary" +DOID:1919,Lesch-Nyhan syndrome,OMIM:300322,Lesch-Nyhan Syndrome +DOID:4183,pseudopseudohypoparathyroidism,OMIM:612463,Pseudopseudohypoparathyroidism +DOID:12098,trigeminal neuralgia,OMIM:190400,Trigeminal Neuralgia +DOID:14692,Smith-Lemli-Opitz syndrome,OMIM:270400,Smith-Lemli-Opitz Syndrome +DOID:3052,Balkan nephropathy,OMIM:124100,Danubian Endemic Familial Nephropathy +DOID:6682,spondylolisthesis,OMIM:184200,Spondylolisthesis +DOID:9883,Becker muscular dystrophy,OMIM:300376,"Muscular Dystrophy, Becker Type" +DOID:4769,pleuropulmonary blastoma,OMIM:601200,Pleuropulmonary Blastoma +DOID:2582,acatalasia,OMIM:614097,Acatalasemia +DOID:0050527,familial hypertriglyceridemia,OMIM:145750,"Hypertriglyceridemia, Familial" +DOID:3263,piebaldism,OMIM:172800,Piebald Trait +DOID:11983,Prader-Willi syndrome,OMIM:176270,Prader-Willi Syndrome +DOID:3590,gestational trophoblastic neoplasm,OMIM:231090,"Hydatidiform Mole, Recurrent, 1" +DOID:0050720,ornithine translocase deficiency,OMIM:238970,Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome +DOID:0050460,Wolf-Hirschhorn syndrome,OMIM:194190,Wolf-Hirschhorn Syndrome +DOID:2565,macular corneal dystrophy,OMIM:217800,"Macular Dystrophy, Corneal, 1" +DOID:11727,facioscapulohumeral muscular dystrophy,OMIM:158900,Facioscapulohumeral Muscular Dystrophy 1 +DOID:13378,Kawasaki disease,OMIM:611775,Kawasaki Disease +DOID:14693,Clouston syndrome,OMIM:129500,Clouston Syndrome +DOID:0050633,ocular albinism,OMIM:300500,"Albinism, Ocular, Type I" +DOID:2752,glycogen storage disease II,OMIM:232300,Glycogen Storage Disease Ii +DOID:9274,hyperlysinemia,OMIM:238700,"Hyperlysinemia, Type I" +DOID:5363,myxoid liposarcoma,OMIM:613488,Myxoid Liposarcoma +DOID:1123,spondyloarthropathy,OMIM:106300,"Spondyloarthropathy, Susceptibility To, 1" +DOID:10383,amyotrophic neuralgia,OMIM:162100,"Amyotrophy, Hereditary Neuralgic" +DOID:0050437,Danon disease,OMIM:300257,Danon Disease +DOID:0050470,Donohue Syndrome,OMIM:246200,Donohue Syndrome +DOID:4447,cystoid macular edema,OMIM:153880,"Macular Edema, Cystoid" +DOID:0050332,enlarged vestibular aqueduct,OMIM:600791,"Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct" +DOID:14778,"blepharophimosis, ptosis, and epicanthus inversus syndrome",OMIM:110100,"Blepharophimosis, Ptosis, And Epicanthus Inversus" +DOID:2907,Goldenhar syndrome,OMIM:164210,Hemifacial Microsomia +DOID:4971,myelofibrosis,OMIM:254450,Myelofibrosis +DOID:0060179,Renpenning syndrome,OMIM:309500,Renpenning Syndrome 1 +DOID:9563,bronchiectasis,OMIM:211400,Bronchiectasis With Or Without Elevated Sweat Chloride 1 +DOID:4252,Alexander disease,OMIM:203450,Alexander Disease +DOID:0080051,"acromesomelic dysplasia, Hunter-Thompson type",OMIM:201250,"Acromesomelic Dysplasia, Hunter-Thompson Type" +DOID:5408,Paget's disease of bone,OMIM:602080,Paget Disease Of Bone +DOID:990,congenital heart block,OMIM:234700,"Heart Block, Congenital" +DOID:529,blepharospasm,OMIM:606798,"Blepharospasm, Benign Essential" +DOID:2224,hemorrhagic thrombocythemia,OMIM:187950,Thrombocythemia 1 +DOID:6255,growth hormone secreting pituitary adenoma,OMIM:102200,"Pituitary Adenoma, Growth Hormone-Secreting" +DOID:14289,Ebstein anomaly,OMIM:224700,Ebstein Anomaly +DOID:12583,velocardiofacial syndrome,OMIM:192430,Velocardiofacial Syndrome +DOID:2748,glycogen storage disease III,OMIM:232400,Glycogen Storage Disease Iii +DOID:14699,thrombocytopenia-absent radius syndrome,OMIM:274000,Thrombocytopenia-Absent Radius Syndrome +DOID:13714,anodontia,OMIM:206780,Anodontia Of Permanent Dentition +DOID:6686,Achard syndrome,OMIM:100700,Achard Syndrome +DOID:3204,neurilemmomatosis,OMIM:162091,Schwannomatosis 1 +DOID:14175,von Hippel-Lindau disease,OMIM:193300,Von Hippel-Lindau Syndrome +DOID:10825,essential hypertension,OMIM:145500,"Hypertension, Essential" +DOID:3928,adiposis dolorosa,OMIM:103200,Adiposis Dolorosa +DOID:12217,Lewy body dementia,OMIM:127750,"Dementia, Lewy Body" +DOID:0050656,pseudo-TORCH syndrome,OMIM:251290,Band-Like Calcification With Simplified Gyration And Polymicrogyria +DOID:3687,MELAS syndrome,OMIM:540000,"Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes" +DOID:3371,chondrosarcoma,OMIM:215300,Chondrosarcoma +DOID:14515,WAGR syndrome,OMIM:194072,"Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome" +DOID:0050561,Lennox-Gastaut syndrome,OMIM:606369,Macrocephaly And Epileptic Encephalopathy +DOID:12918,thromboangiitis obliterans,OMIM:211480,Buerger Disease +DOID:2750,glycogen storage disease IV,OMIM:232500,Glycogen Storage Disease Iv +DOID:2746,glycogen storage disease V,OMIM:232600,Glycogen Storage Disease V +DOID:3323,Sandhoff disease,OMIM:268800,Sandhoff Disease +DOID:9744,type 1 diabetes mellitus,OMIM:222100,"Diabetes Mellitus, Insulin-Dependent" +DOID:5117,dermoid cyst of ovary,OMIM:166950,"Teratoma, Ovarian" +DOID:1858,McCune Albright syndrome,OMIM:174800,Mccune-Albright Syndrome +DOID:9250,acrocallosal syndrome,OMIM:200990,Acrocallosal Syndrome +DOID:14218,dihydropyrimidine dehydrogenase deficiency,OMIM:274270,Dihydropyrimidine Dehydrogenase Deficiency +DOID:3852,Peutz-Jeghers syndrome,OMIM:175200,Peutz-Jeghers Syndrome +DOID:1540,parathyroid carcinoma,OMIM:608266,Parathyroid Carcinoma +DOID:0050331,LADD syndrome,OMIM:149730,Lacrimoauriculodentodigital Syndrome +DOID:2219,Glanzmann's thrombasthenia,OMIM:273800,Glanzmann Thrombasthenia +DOID:0080052,"acromesomelic dysplasia, Grebe type",OMIM:200700,"Chondrodysplasia, Grebe Type" +DOID:758,situs inversus,OMIM:270100,"Heterotaxy, Visceral, 5, Autosomal" +DOID:12894,Sjogren's syndrome,OMIM:270150,Sjogren Syndrome +DOID:14705,Pfeiffer syndrome,OMIM:101600,Pfeiffer Syndrome +DOID:0050834,CHARGE syndrome,OMIM:214800,Charge Syndrome +DOID:0050677,Bjornstad syndrome,OMIM:262000,Bjornstad Syndrome +DOID:11721,glycogen storage disease VII,OMIM:232800,Glycogen Storage Disease Vii +DOID:0050658,Bart-Pumphrey syndrome,OMIM:149200,"Knuckle Pads, Leukonychia, And Sensorineural Deafness" +DOID:11719,oculopharyngeal muscular dystrophy,OMIM:164300,Oculopharyngeal Muscular Dystrophy +DOID:5394,prolactinoma,OMIM:600634,"Pituitary Adenoma, Prolactin-Secreting" +DOID:0060060,non-Hodgkin lymphoma,OMIM:605027,"Lymphoma, Non-Hodgkin, Familial" +DOID:0050882,spinocerebellar ataxia type 5,OMIM:600224,Spinocerebellar Ataxia 5 +DOID:11353,bladder diverticulum,OMIM:109820,Bladder Diverticulum +DOID:0050552,Sugio-Kajii syndrome,OMIM:190351,"Trichorhinophalangeal Syndrome, Type Iii" +DOID:9273,citrullinemia,OMIM:215700,"Citrullinemia, Classic" +DOID:1442,Alpers syndrome,OMIM:203700,Mitochondrial Dna Depletion Syndrome 4a (Alpers Type) +DOID:0080026,otospondylomegaepiphyseal dysplasia,OMIM:215150,Otospondylomegaepiphyseal Dysplasia +DOID:0050559,Fukuyama congenital muscular dystrophy,OMIM:253800,"Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4" +DOID:0050724,PSPH deficiency,OMIM:614023,Phosphoserine Phosphatase Deficiency +DOID:11722,myotonic dystrophy type 1,OMIM:160900,Myotonic Dystrophy 1 +DOID:0050678,Blau syndrome,OMIM:186580,Blau Syndrome +DOID:0050638,transthyretin amyloidosis,OMIM:105210,"Amyloidosis, Hereditary, Transthyretin-Related" +DOID:5520,head and neck squamous cell carcinoma,OMIM:275355,"Squamous Cell Carcinoma, Head And Neck" +DOID:0050657,Bannayan-Riley-Ruvalcaba syndrome,OMIM:153480,Bannayan-Riley-Ruvalcaba Syndrome +DOID:705,leber hereditary optic neuropathy,OMIM:535000,Leber Optic Atrophy +DOID:4624,Ollier disease,OMIM:166000,"Enchondromatosis, Multiple, Ollier Type" +DOID:3649,pyruvate decarboxylase deficiency,OMIM:312170,Pyruvate Dehydrogenase E1-Alpha Deficiency +DOID:9212,pityriasis rubra pilaris,OMIM:173200,Pityriasis Rubra Pilaris +DOID:13374,fibrodysplasia ossificans progressiva,OMIM:135100,Fibrodysplasia Ossificans Progressiva +DOID:0050637,Finnish type amyloidosis,OMIM:105120,"Amyloidosis, Finnish Type" +DOID:3210,Pelizaeus-Merzbacher disease,OMIM:312080,Pelizaeus-Merzbacher Disease +DOID:14261,fragile X syndrome,OMIM:300624,Fragile X Mental Retardation Syndrome +DOID:13269,hereditary coproporphyria,OMIM:121300,"Coproporphyria, Hereditary" +DOID:0050556,infantile onset spinocerebellar ataxia,OMIM:271245,Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) +DOID:5572,Beckwith-Wiedemann syndrome,OMIM:130650,Beckwith-Wiedemann Syndrome +DOID:0050601,ADULT syndrome,OMIM:103285,Adult Syndrome +DOID:3534,Lafora disease,OMIM:254780,Myoclonic Epilepsy Of Lafora +DOID:0050587,trichotillomania,OMIM:613229,Trichotillomania +DOID:0050603,acheiropody,OMIM:200500,Acheiropody +DOID:4795,Tay-Sachs disease AB variant,OMIM:272750,"Gm2-Gangliosidosis, Ab Variant" +DOID:8997,polycythemia vera,OMIM:263300,Polycythemia Vera +DOID:2732,Rothmund-Thomson syndrome,OMIM:268400,Rothmund-Thomson Syndrome +DOID:10915,Wernicke-Korsakoff syndrome,OMIM:277730,Wernicke-Korsakoff Syndrome +DOID:12134,factor VIII deficiency,OMIM:134500,Factor Viii Deficiency +DOID:0050833,orotic aciduria,OMIM:258900,Orotic Aciduria +DOID:14250,Down syndrome,OMIM:190685,Down Syndrome +DOID:12169,carpal tunnel syndrome,OMIM:115430,Carpal Tunnel Syndrome +DOID:3890,acute intermittent porphyria,OMIM:176000,"Porphyria, Acute Intermittent" +DOID:12704,ataxia telangiectasia,OMIM:208900,Ataxia-Telangiectasia +DOID:3969,papillary thyroid carcinoma,OMIM:188550,"Thyroid Carcinoma, Papillary" +DOID:5204,"fructose-1,6-bisphosphatase deficiency",OMIM:229700,"Fructose-1,6-Bisphosphatase Deficiency" +DOID:4480,achondroplasia,OMIM:100800,Achondroplasia +DOID:0050463,campomelic dysplasia,OMIM:114290,Campomelic Dysplasia +DOID:0050684,Bowen-Conradi syndrome,OMIM:211180,Bowen-Conradi Syndrome +DOID:0050675,Birk-Barel syndrome,OMIM:612292,Birk-Barel Mental Retardation Dysmorphism Syndrome +DOID:1930,Laurence-Moon syndrome,OMIM:245800,Laurence-Moon Syndrome +DOID:3302,chordoma,OMIM:215400,"Chordoma, Susceptibility To" +DOID:1070,primary open angle glaucoma,OMIM:137760,"Glaucoma, Primary Open Angle" +DOID:1935,Bardet-Biedl syndrome,OMIM:209900,Bardet-Biedl Syndrome +DOID:11996,spermatic cord torsion,OMIM:187400,Testicular Torsion +DOID:10923,sickle cell anemia,OMIM:603903,Sickle Cell Anemia +DOID:14118,familial lipoprotein lipase deficiency,OMIM:238600,"Hyperlipoproteinemia, Type I" +DOID:14365,systemic primary carnitine deficiency disease,OMIM:212140,"Carnitine Deficiency, Systemic Primary" +DOID:14323,Marfan syndrome,OMIM:154700,Marfan Syndrome +DOID:11042,Felty's syndrome,OMIM:134750,Felty Syndrome +DOID:0050790,fibular hypoplasia and complex brachydactyly,OMIM:228900,Fibular Hypoplasia And Complex Brachydactyly +DOID:2106,Thomsen disease,OMIM:160800,"Myotonia Congenita, Autosomal Dominant" +DOID:0050655,Bamforth-Lazarus syndrome,OMIM:241850,"Hypothyroidism, Athyroidal, With Spiky Hair And Cleft Palate" +DOID:1056,oculocerebrorenal syndrome,OMIM:309000,Lowe Oculocerebrorenal Syndrome +DOID:6713,cerebrovascular disease,OMIM:601367,"Stroke, Ischemic" +DOID:13166,allergic bronchopulmonary aspergillosis,OMIM:103920,"Allergic Bronchopulmonary Aspergillosis, Familial" +DOID:0050883,infantile cerebellar-retinal degeneration,OMIM:614559,Infantile Cerebellar-Retinal Degeneration +DOID:10300,Raynaud disease,OMIM:179600,Raynaud Disease +DOID:11329,ainhum,OMIM:103400,Ainhum +DOID:0050125,dengue shock syndrome,OMIM:614371,"Dengue Virus, Susceptibility To" +DOID:288,endometriosis of uterus,OMIM:600458,Adenomyosis +DOID:14498,lipoid proteinosis,OMIM:247100,Lipoid Proteinosis Of Urbach And Wiethe +DOID:11202,primary hyperparathyroidism,OMIM:600166,"Hyperparathyroidism, Primary, Caused By Water Clear Cell Hyperplasia" +DOID:14671,multiple intestinal atresia,OMIM:243150,"Intestinal Atresia, Multiple" +DOID:1856,cherubism,OMIM:118400,Cherubism +DOID:0050387,nonpapillary renal cell carcinoma,OMIM:144700,"Renal Cell Carcinoma, Nonpapillary" +DOID:14415,Legg-Calve-Perthes Disease,OMIM:150600,Legg-Calve-Perthes Disease +DOID:0050660,Beare-Stevenson cutis gyrata syndrome,OMIM:123790,Beare-Stevenson Cutis Gyrata Syndrome +DOID:11252,microcytic anemia,OMIM:206200,Iron-Refractory Iron Deficiency Anemia +DOID:11476,osteoporosis,OMIM:166710,Osteoporosis +DOID:0050606,acrokeratosis verruciformis,OMIM:101900,Acrokeratosis Verruciformis +DOID:0050476,Barth syndrome,OMIM:302060,Barth Syndrome +DOID:0060066,pyridoxine-responsive sideroblastic anemia,OMIM:206000,"Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive" +DOID:13271,cutaneous porphyria,OMIM:263700,"Porphyria, Congenital Erythropoietic" +DOID:893,Wilson disease,OMIM:277900,Wilson Disease +DOID:0060161,Kennedy's disease,OMIM:313200,"Spinal And Bulbar Muscular Atrophy, X-Linked 1" +DOID:3320,Tay-Sachs disease,OMIM:272800,Tay-Sachs Disease +DOID:13482,Proteus syndrome,OMIM:176920,Proteus Syndrome +DOID:0050156,idiopathic pulmonary fibrosis,OMIM:178500,"Pulmonary Fibrosis, Idiopathic" +DOID:0060162,dentatorubral-pallidoluysian atrophy,OMIM:125370,Dentatorubral-Pallidoluysian Atrophy +DOID:4674,androgen insensitivity syndrome,OMIM:300068,Androgen Insensitivity Syndrome +DOID:0050662,bestrophinopathy,OMIM:611809,"Bestrophinopathy, Autosomal Recessive" +DOID:8552,chronic myeloid leukemia,OMIM:608232,"Leukemia, Chronic Myeloid" +DOID:4603,epidermolytic hyperkeratosis,OMIM:113800,Epidermolytic Hyperkeratosis +DOID:14762,calcaneonavicular coalition,OMIM:186400,"Synostoses, Tarsal, Carpal, And Digital" +DOID:0050716,methylmalonic aciduria and homocystinuria type cblD,OMIM:277410,"Methylmalonic Aciduria And Homocystinuria, Cbld Type" +DOID:14227,azoospermia,OMIM:415000,"Spermatogenic Failure, Y-Linked, 2" +DOID:0050530,intermediate spinal muscular atrophy,OMIM:253550,"Spinal Muscular Atrophy, Type Ii" +DOID:14723,beta-ketothiolase deficiency,OMIM:203750,Alpha-Methylacetoacetic Aciduria +DOID:12707,myoclonic cerebellar dyssynergia,OMIM:213400,Cerebelloparenchymal Disorder V +DOID:4346,variegate porphyria,OMIM:176200,Porphyria Variegata +DOID:14757,type III Ehlers-Danlos syndrome,OMIM:130020,"Ehlers-Danlos Syndrome, Type Iii" +DOID:6457,Cowden disease,OMIM:158350,Cowden Syndrome 1 +DOID:3783,Coffin-Lowry syndrome,OMIM:303600,Coffin-Lowry Syndrome +DOID:0050759,myotonic dystrophy type 2,OMIM:602668,Myotonic Dystrophy 2 +DOID:3413,alpha-mannosidosis,OMIM:248500,"Mannosidosis, Alpha B, Lysosomal" +DOID:0050694,Brown-Vialetto-Van Laere syndrome,OMIM:211530,Brown-Vialetto-Van Laere Syndrome 1 +DOID:0080021,Schmid metaphyseal chondrodysplasia,OMIM:156500,"Metaphyseal Chondrodysplasia, Schmid Type" +DOID:0050554,X-linked sideroblastic anemia with ataxia,OMIM:301310,"Anemia, Sideroblastic, And Spinocerebellar Ataxia" +DOID:8584,Burkitt lymphoma,OMIM:113970,Burkitt Lymphoma +DOID:6419,tetralogy of Fallot,OMIM:187500,Tetralogy Of Fallot +DOID:1837,diabetic ketoacidosis,OMIM:612227,"Diabetes Mellitus, Ketosis-Prone" +DOID:12305,Bloch-Sulzberger syndrome,OMIM:308300,Incontinentia Pigmenti +DOID:0050792,multiple cutaneous and mucosal venous malformations,OMIM:600195,"Venous Malformations, Multiple Cutaneous And Mucosal" +DOID:1699,congenital ichthyosiform erythroderma,OMIM:242100,"Ichthyosis, Congenital, Autosomal Recessive 2" +DOID:0080030,"spondyloepimetaphyseal dysplasia, Missouri type",OMIM:602111,"Spondyloepimetaphyseal Dysplasia, Missouri Type" +DOID:0050802,Ehlers-Danlos syndrome progeroid type,OMIM:615349,"Ehlers-Danlos Syndrome, Progeroid Type, 2" +DOID:1485,cystic fibrosis,OMIM:219700,Cystic Fibrosis +DOID:0050558,Ullrich congenital muscular dystrophy,OMIM:254090,Ullrich Congenital Muscular Dystrophy +DOID:1925,Coffin-Siris syndrome,OMIM:135900,Coffin-Siris Syndrome +DOID:2452,thrombophilia,OMIM:188050,Thrombophilia Due To Thrombin Defect diff --git a/src/ontology/sparql/equivalentClasses.sparql b/src/ontology/sparql/equivalentClasses.sparql index b5b07fd..ed5ccdd 100644 --- a/src/ontology/sparql/equivalentClasses.sparql +++ b/src/ontology/sparql/equivalentClasses.sparql @@ -1,9 +1,12 @@ prefix oio: prefix owl: +prefix rdfs: -SELECT * WHERE +SELECT ?baseClass ?baseLabel ?equivalentClass ?equivalentLabel WHERE { ?baseClass owl:equivalentClass ?equivalentClass . + ?baseClass rdfs:label ?baseLabel . + ?equivalentClass rdfs:label ?equivalentLabel . FILTER (!isBlank(?baseClass)) . FILTER (!isBlank(?equivalentClass))