;UMLS_CUI;n_gen;disnet_id;n_sympton;OrphaCode;Orphanet_name;UMLS_name;ICD_category_name;disnet_name
0;C0001079;3;DIS001714;12;932;Achondrogenesis;Achondrogenesis;Congenital malformations, deformations and chromosomal abnormalities;Hypochondrogenesis
30;C0016952;9;DIS005638;26;352;Galactosemia;Galactosemias;Endocrine, nutritional and metabolic diseases;Galactose-1-phosphate uridylyltransferase deficiency
32;C0017205;11;DIS003696;33;355;Gaucher disease;Gaucher Disease;Endocrine, nutritional and metabolic diseases;Gaucher's disease
35;C0019021;1;DIS005824;6;2132;Hemoglobin C disease;Hemoglobin C Disease;Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism;Hemoglobin C
36;C0019021;1;DIS009431;42;2132;Hemoglobin C disease;Hemoglobin C Disease;Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism;hemoglobin C disease
46;C0022340;11;DIS003367;12;168491;Late infantile neuronal ceroid lipofuscinosis;Late-Infantile Neuronal Ceroid Lipfuscinosis;Endocrine, nutritional and metabolic diseases;Infantile neuronal ceroid lipofuscinosis
47;C0022340;11;DIS005513;12;168491;Late infantile neuronal ceroid lipofuscinosis;Late-Infantile Neuronal Ceroid Lipfuscinosis;Endocrine, nutritional and metabolic diseases;Jansky–Bielschowsky disease
48;C0022340;11;DIS006091;12;168491;Late infantile neuronal ceroid lipofuscinosis;Late-Infantile Neuronal Ceroid Lipfuscinosis;Endocrine, nutritional and metabolic diseases;Northern epilepsy syndrome
49;C0022340;11;DIS006400;80;168491;Late infantile neuronal ceroid lipofuscinosis;Late-Infantile Neuronal Ceroid Lipfuscinosis;Endocrine, nutritional and metabolic diseases;Batten disease
50;C0022340;11;DIS006521;52;168491;Late infantile neuronal ceroid lipofuscinosis;Late-Infantile Neuronal Ceroid Lipfuscinosis;Endocrine, nutritional and metabolic diseases;Neuronal ceroid lipofuscinosis
118;C0036400;6;DIS005742;72;185;Scimitar syndrome;Scimitar Syndrome;Congenital malformations, deformations and chromosomal abnormalities;Scimitar syndrome
119;C0036400;6;DIS005742;72;99125;Congenital total pulmonary venous return anomaly;Scimitar Syndrome;Congenital malformations, deformations and chromosomal abnormalities;Scimitar syndrome
123;C0040896;1;DIS005886;37;863;Trichinellosis;Trichinellosis;Certain infectious and parasitic diseases;Trichinosis
128;C0043116;13;DIS004830;38;83330;Proximal spinal muscular atrophy type 1;HMN (Hereditary Motor Neuropathy) Proximal Type I;Diseases of the nervous system;Spinal muscular atrophy
129;C0043167;2;DIS007956;20;1489;Whooping cough;Pertussis;Certain infectious and parasitic diseases;Pertussis
130;C0043167;2;DIS009008;36;1489;Whooping cough;Pertussis;Certain infectious and parasitic diseases;Whooping cough
131;C0043168;3;DIS007956;20;1489;Whooping cough;Whooping cough due to unspecified organism;Certain infectious and parasitic diseases;Pertussis
132;C0043168;3;DIS009008;36;1489;Whooping cough;Whooping cough due to unspecified organism;Certain infectious and parasitic diseases;Whooping cough
156;C0086651;3;DIS005141;40;309297;Mucopolysaccharidosis type 4A;Mucopolysaccharidosis, MPS-IV-A;Endocrine, nutritional and metabolic diseases;Morquio syndrome
157;C0086651;3;DIS009224;45;309297;Mucopolysaccharidosis type 4A;Mucopolysaccharidosis, MPS-IV-A;Endocrine, nutritional and metabolic diseases;mucopolysaccharidosis IV
166;C0149955;5;DIS006811;11;675;Annular pancreas;Annular pancreas;Congenital malformations, deformations and chromosomal abnormalities;Annular pancreas
167;C0152095;2;DIS004794;11;3378;Trisomy 13;Patau syndrome;Congenital malformations, deformations and chromosomal abnormalities;Patau syndrome
179;C0152268;14;DIS008024;1;98843;Classic Hodgkin lymphoma, nodular sclerosis type;Nodular Sclerosis Classical Hodgkin Lymphoma;Neoplasms;Nodular sclerosis
183;C0153579;4;DIS004214;10;180242;Malignant tumor of fallopian tubes;Malignant neoplasm of fallopian tube;Neoplasms;Fallopian tube cancer
184;C0153601;6;DIS006470;15;398043;Malignant tumor of penis;Malignant neoplasm of penis;Neoplasms;Penile cancer
187;C0155773;10;DIS013215;23;854;Primitive portal vein thrombosis;Portal vein thrombosis;Diseases of the circulatory system;Portal vein thrombosis
192;C0175816;2;DIS005640;32;228312;Autoimmune hemolytic anemia, cold type;Cold Hemagglutinin Disease;Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism;Autoimmune hemolytic anemia
194;C0175816;2;DIS006064;90;228312;Autoimmune hemolytic anemia, cold type;Cold Hemagglutinin Disease;Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism;Cold agglutinin disease
201;C0238286;5;DIS003811;15;578;Mucolipidosis type IV;Mucolipidosis Type IV;Endocrine, nutritional and metabolic diseases;Mucolipidosis type IV
202;C0238286;5;DIS004849;9;578;Mucolipidosis type IV;Mucolipidosis Type IV;Endocrine, nutritional and metabolic diseases;Pseudo-Hurler polydystrophy
203;C0238286;5;DIS005506;33;578;Mucolipidosis type IV;Mucolipidosis Type IV;Endocrine, nutritional and metabolic diseases;I-cell disease
204;C0238286;5;DIS007879;3;578;Mucolipidosis type IV;Mucolipidosis Type IV;Endocrine, nutritional and metabolic diseases;Mucolipidosis
205;C0238506;3;DIS003224;8;93110;Posterior urethral valve;Congenital posterior urethral valves;Congenital malformations, deformations and chromosomal abnormalities;Posterior urethral valve
237;C0270733;1;DIS008863;33;98933;Multiple system atrophy, parkinsonian type;Striatonigral Degeneration;Diseases of the nervous system;striatonigral degeneration
243;C0282513;6;DIS007218;18;95432;Primary progressive aphasia;Primary Progressive Aphasia (disorder);Diseases of the nervous system;Primary progressive aphasia
245;C0302892;2;DIS003294;49;2940;Porencephaly;Congenital porencephaly;Congenital malformations, deformations and chromosomal abnormalities;Porencephaly
255;C0344963;1;DIS004943;15;98723;Hypoplastic right heart syndrome;Right hypoplastic heart syndrome;Congenital malformations, deformations and chromosomal abnormalities;Hypoplastic right heart syndrome
256;C0346109;1;DIS004912;12;168811;Malignant peritoneal mesothelioma;Malignant Mesothelioma of Peritoneum;Neoplasms;Peritoneal mesothelioma
262;C0393847;1;DIS004065;14;641;Multifocal motor neuropathy;Multifocal motor neuropathy;Diseases of the nervous system;Multifocal motor neuropathy
269;C0410422;6;DIS000439;4;324964;Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis;Chronic multifocal osteomyelitis;Diseases of the musculoskeletal system and connective tissue;SAPHO syndrome
270;C0410422;6;DIS007110;6;324964;Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis;Chronic multifocal osteomyelitis;Diseases of the musculoskeletal system and connective tissue;Chronic recurrent multifocal osteomyelitis
301;C0751434;3;DIS003597;4;716;Phenylketonuria;Classical phenylketonuria;Endocrine, nutritional and metabolic diseases;Hyperphenylalaninemia
302;C0751434;3;DIS003812;30;716;Phenylketonuria;Classical phenylketonuria;Endocrine, nutritional and metabolic diseases;Phenylketonuria
304;C0752304;5;DIS006692;11;137577;Neonatal hypoxic and ischemic brain injury;Hypoxic-Ischemic Encephalopathy;Certain conditions originating in the perinatal period;Neonatal encephalopathy
344;C1567741;7;DIS005267;32;88917;X-linked Alport syndrome;Alport Syndrome;Congenital malformations, deformations and chromosomal abnormalities;Alport syndrome
356;C2939174;3;DIS005290;11;34149;Autosomal dominant tubulointerstitial kidney disease;Medullary cystic disease;Congenital malformations, deformations and chromosomal abnormalities;Medullary sponge kidney
357;C2939174;3;DIS006880;21;34149;Autosomal dominant tubulointerstitial kidney disease;Medullary cystic disease;Congenital malformations, deformations and chromosomal abnormalities;Medullary cystic kidney disease
358;C2939174;3;DIS007735;7;34149;Autosomal dominant tubulointerstitial kidney disease;Medullary cystic disease;Congenital malformations, deformations and chromosomal abnormalities;Nephronophthisis