;UMLS_CUI;n_gen;disnet_id;n_sympton;OrphaCode;Orphanet_name;UMLS_name;ICD_category_name;disnet_name
32;C0017205;11;DIS003696;33;355;Gaucher disease;Gaucher Disease;Endocrine, nutritional and metabolic diseases;Gaucher's disease
64;C0023944;1;DIS006998;27;2406;Locked-in syndrome;Locked-In Syndrome;Diseases of the nervous system;Tetraplegia
65;C0023944;1;DIS007965;17;2406;Locked-in syndrome;Locked-In Syndrome;Diseases of the nervous system;Locked-in syndrome
66;C0024054;1;DIS004718;6;844;Lown-Ganong-Levine syndrome;Lown-Ganong-Levine Syndrome;Diseases of the circulatory system;Lown–Ganong–Levine syndrome
67;C0024054;1;DIS009237;15;844;Lown-Ganong-Levine syndrome;Lown-Ganong-Levine Syndrome;Diseases of the circulatory system;Lown-Ganong-Levine syndrome
110;C0031575;3;DIS003968;2;294975;Congenital absence of upper arm and forearm with hand present;Phocomelia;Congenital malformations, deformations and chromosomal abnormalities;Sirenomelia
111;C0031575;3;DIS004707;20;294975;Congenital absence of upper arm and forearm with hand present;Phocomelia;Congenital malformations, deformations and chromosomal abnormalities;Phocomelia
119;C0036400;6;DIS005742;72;99125;Congenital total pulmonary venous return anomaly;Scimitar Syndrome;Congenital malformations, deformations and chromosomal abnormalities;Scimitar syndrome
127;C0042974;7;DIS007467;20;903;Von Willebrand disease;von Willebrand Disease;Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism;Von Willebrand disease
139;C0079683;5;DIS008110;6;79404;Junctional epidermolysis bullosa, generalized severe;Herlitz Disease;Congenital malformations, deformations and chromosomal abnormalities;Junctional epidermolysis bullosa (medicine)
213;C0265202;15;DIS007060;4;808;Seckel syndrome;Seckel syndrome;Congenital malformations, deformations and chromosomal abnormalities;Seckel syndrome
220;C0268059;1;DIS005278;2;446;Neonatal hemochromatosis;Neonatal hemochromatosis;Certain conditions originating in the perinatal period;Neonatal hemochromatosis
221;C0268059;1;DIS009381;43;446;Neonatal hemochromatosis;Neonatal hemochromatosis;Certain conditions originating in the perinatal period;hemochromatosis
243;C0282513;6;DIS007218;18;95432;Primary progressive aphasia;Primary Progressive Aphasia (disorder);Diseases of the nervous system;Primary progressive aphasia
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
289;C0549463;11;DIS005733;1;538931;X-linked lymphoproliferative disease due to SH2D1A deficiency;X-Linked Lymphoproliferative Disorder;Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism;Lymphoproliferative disorders
342;C1334968;13;DIS003466;87;86893;Nodular lymphocyte predominant Hodgkin lymphoma;Nodular Lymphocyte Predominant Hodgkin Lymphoma;Neoplasms;Hodgkin's lymphoma
343;C1334968;13;DIS013438;111;86893;Nodular lymphocyte predominant Hodgkin lymphoma;Nodular Lymphocyte Predominant Hodgkin Lymphoma;Neoplasms;Hodgkin lymphoma
350;C1852146;1;DIS004797;11;493342;Vibratory urticaria;Vibratory urticaria;Diseases of the skin and subcutaneous tissue;Dermatographic urticaria