;UMLS_CUI;n_gen;disnet_id;n_sympton;OrphaCode;Orphanet_name;UMLS_name;ICD_category_name;disnet_name
9;C0011195;31;DIS004828;21;64748;Dejerine-Sottas syndrome;Dejerine-Sottas Disease (disorder);Diseases of the nervous system;Hereditary motor and sensory neuropathy
10;C0011195;31;DIS006265;10;64748;Dejerine-Sottas syndrome;Dejerine-Sottas Disease (disorder);Diseases of the nervous system;Dejerine–Sottas 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
78;C0024901;1;DIS004602;237;79456;Diffuse cutaneous mastocytosis;Mastocytosis, Diffuse Cutaneous;Neoplasms;Mastocytosis
94;C0027877;38;DIS003367;12;168486;Congenital neuronal ceroid lipofuscinosis;Neuronal Ceroid-Lipofuscinoses;Endocrine, nutritional and metabolic diseases;Infantile neuronal ceroid lipofuscinosis
96;C0027877;38;DIS005513;12;168486;Congenital neuronal ceroid lipofuscinosis;Neuronal Ceroid-Lipofuscinoses;Endocrine, nutritional and metabolic diseases;Jansky–Bielschowsky disease
98;C0027877;38;DIS006091;12;168486;Congenital neuronal ceroid lipofuscinosis;Neuronal Ceroid-Lipofuscinoses;Endocrine, nutritional and metabolic diseases;Northern epilepsy syndrome
100;C0027877;38;DIS006400;80;168486;Congenital neuronal ceroid lipofuscinosis;Neuronal Ceroid-Lipofuscinoses;Endocrine, nutritional and metabolic diseases;Batten disease
102;C0027877;38;DIS006521;52;168486;Congenital neuronal ceroid lipofuscinosis;Neuronal Ceroid-Lipofuscinoses;Endocrine, nutritional and metabolic diseases;Neuronal ceroid lipofuscinosis
116;C0036391;23;DIS006806;11;800;Schwartz-Jampel syndrome;Schwartz-Jampel Syndrome;Diseases of the nervous system;Multiple epiphyseal dysplasia
117;C0036391;23;DIS010678;5;800;Schwartz-Jampel syndrome;Schwartz-Jampel Syndrome;Diseases of the nervous system;Schwartz–Jampel syndrome
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
271;C0432066;6;DIS004657;52;965;Acromegaloid facial appearance syndrome;Congenital malformation syndromes affecting facial appearance;Congenital malformations, deformations and chromosomal abnormalities;Goldenhar syndrome
272;C0432066;6;DIS004717;4;965;Acromegaloid facial appearance syndrome;Congenital malformation syndromes affecting facial appearance;Congenital malformations, deformations and chromosomal abnormalities;Apert syndrome
273;C0432066;6;DIS004821;13;965;Acromegaloid facial appearance syndrome;Congenital malformation syndromes affecting facial appearance;Congenital malformations, deformations and chromosomal abnormalities;Carpenter syndrome
274;C0432066;6;DIS005016;10;965;Acromegaloid facial appearance syndrome;Congenital malformation syndromes affecting facial appearance;Congenital malformations, deformations and chromosomal abnormalities;Fraser syndrome
275;C0432066;6;DIS005129;37;965;Acromegaloid facial appearance syndrome;Congenital malformation syndromes affecting facial appearance;Congenital malformations, deformations and chromosomal abnormalities;Kabuki syndrome
276;C0432066;6;DIS005147;7;965;Acromegaloid facial appearance syndrome;Congenital malformation syndromes affecting facial appearance;Congenital malformations, deformations and chromosomal abnormalities;Cyclopia
277;C0432066;6;DIS005274;49;965;Acromegaloid facial appearance syndrome;Congenital malformation syndromes affecting facial appearance;Congenital malformations, deformations and chromosomal abnormalities;Pierre Robin syndrome
278;C0432066;6;DIS005565;18;965;Acromegaloid facial appearance syndrome;Congenital malformation syndromes affecting facial appearance;Congenital malformations, deformations and chromosomal abnormalities;3C syndrome
279;C0432066;6;DIS006372;10;965;Acromegaloid facial appearance syndrome;Congenital malformation syndromes affecting facial appearance;Congenital malformations, deformations and chromosomal abnormalities;Möbius syndrome
280;C0432066;6;DIS007226;5;965;Acromegaloid facial appearance syndrome;Congenital malformation syndromes affecting facial appearance;Congenital malformations, deformations and chromosomal abnormalities;Antley–Bixler syndrome
281;C0432066;6;DIS007778;58;965;Acromegaloid facial appearance syndrome;Congenital malformation syndromes affecting facial appearance;Congenital malformations, deformations and chromosomal abnormalities;Branchio-oto-renal syndrome
282;C0432066;6;DIS008087;7;965;Acromegaloid facial appearance syndrome;Congenital malformation syndromes affecting facial appearance;Congenital malformations, deformations and chromosomal abnormalities;Pfeiffer syndrome
283;C0432066;6;DIS009256;69;965;Acromegaloid facial appearance syndrome;Congenital malformation syndromes affecting facial appearance;Congenital malformations, deformations and chromosomal abnormalities;Mobius syndrome
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
294;C0751337;44;DIS004547;32;437572;MYH7-related late-onset scapuloperoneal muscular dystrophy;X-Linked Emery-Dreifuss Muscular Dystrophy;Diseases of the nervous system;Emery–Dreifuss muscular dystrophy
308;C0869083;12;DIS003439;11;1563;Dahlberg-Borer-Newcomer syndrome;Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM;Congenital malformations, deformations and chromosomal abnormalities;Townes–Brocks syndrome
309;C0869083;12;DIS003514;34;1563;Dahlberg-Borer-Newcomer syndrome;Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM;Congenital malformations, deformations and chromosomal abnormalities;Bardet–Biedl syndrome
310;C0869083;12;DIS003591;15;1563;Dahlberg-Borer-Newcomer syndrome;Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM;Congenital malformations, deformations and chromosomal abnormalities;Yunis–Varon syndrome
311;C0869083;12;DIS003663;1;1563;Dahlberg-Borer-Newcomer syndrome;Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM;Congenital malformations, deformations and chromosomal abnormalities;Urban–Rogers–Meyer syndrome
312;C0869083;12;DIS003690;9;1563;Dahlberg-Borer-Newcomer syndrome;Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM;Congenital malformations, deformations and chromosomal abnormalities;Neu-Laxova syndrome
313;C0869083;12;DIS003971;56;1563;Dahlberg-Borer-Newcomer syndrome;Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM;Congenital malformations, deformations and chromosomal abnormalities;Zellweger syndrome
314;C0869083;12;DIS004198;59;1563;Dahlberg-Borer-Newcomer syndrome;Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM;Congenital malformations, deformations and chromosomal abnormalities;CHARGE syndrome
315;C0869083;12;DIS005030;18;1563;Dahlberg-Borer-Newcomer syndrome;Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM;Congenital malformations, deformations and chromosomal abnormalities;Stickler syndrome
316;C0869083;12;DIS005267;32;1563;Dahlberg-Borer-Newcomer syndrome;Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM;Congenital malformations, deformations and chromosomal abnormalities;Alport syndrome
317;C0869083;12;DIS005309;30;1563;Dahlberg-Borer-Newcomer syndrome;Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM;Congenital malformations, deformations and chromosomal abnormalities;Alström syndrome
318;C0869083;12;DIS006533;2;1563;Dahlberg-Borer-Newcomer syndrome;Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM;Congenital malformations, deformations and chromosomal abnormalities;Dahlberg Borer Newcomer syndrome
319;C0869083;12;DIS006700;31;1563;Dahlberg-Borer-Newcomer syndrome;Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM;Congenital malformations, deformations and chromosomal abnormalities;Cerebroretinal microangiopathy with calcifications and cysts
320;C0869083;12;DIS007350;35;1563;Dahlberg-Borer-Newcomer syndrome;Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM;Congenital malformations, deformations and chromosomal abnormalities;Coffin–Lowry syndrome
321;C0869083;12;DIS007578;21;1563;Dahlberg-Borer-Newcomer syndrome;Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM;Congenital malformations, deformations and chromosomal abnormalities;Laurence–Moon syndrome
322;C0869083;12;DIS007906;3;1563;Dahlberg-Borer-Newcomer syndrome;Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM;Congenital malformations, deformations and chromosomal abnormalities;Cardiofaciocutaneous syndrome
323;C0869083;12;DIS008019;28;1563;Dahlberg-Borer-Newcomer syndrome;Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM;Congenital malformations, deformations and chromosomal abnormalities;Johanson–Blizzard syndrome
324;C0869083;12;DIS014260;8;1563;Dahlberg-Borer-Newcomer syndrome;Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM;Congenital malformations, deformations and chromosomal abnormalities;Neu–Laxova syndrome
350;C1852146;1;DIS004797;11;493342;Vibratory urticaria;Vibratory urticaria;Diseases of the skin and subcutaneous tissue;Dermatographic urticaria