Id,Label,Disease class
222,Osteoporosis,Bone
306,Epiphyseal dysplasia,Bone
277,Osteopetrosis,Bone
286,Osteogenesis imperfecta,Bone
288,"Achondrogenesis-hypochondrogenesis, type II",Bone
311,OSMED syndrome,Bone
405,"Dentin dysplasia, type II",Bone
406,"Dentinogenesis imperfecta, Shields type",Bone
407,Achondrogenesis Ib,Bone
577,Osseous heteroplasia,Bone
637,"Apparent mineralocorticoid excess, hypertension due to",Bone
743,Bone mineral density variability,Bone
745,"Hyperostosis, endosteal",Bone
746,Osteoporosis-pseudoglioma syndrome,Bone
1148,Arthropathy,Bone
47,Leukemia,Cancer
114,Colon cancer,Cancer
137,Breast cancer,Cancer
139,Prostate cancer,Cancer
634,Thyroid carcinoma,Cancer
117,Gastric cancer,Cancer
155,Lymphoma,Cancer
59,Pancreatic cancer,Cancer
197,Ovarian cancer,Cancer
224,Hepatic adenoma,Cancer
775,Renal cell carcinoma,Cancer
200,Melanoma,Cancer
384,Glioblastoma,Cancer
199,Adenocarcinoma,Cancer
203,Wilms tumor,Cancer
237,Myelogenous leukemia,Cancer
248,Endometrial carcinoma,Cancer
314,Lung cancer,Cancer
474,Bladder cancer,Cancer
497,Rhabdomyosarcoma,Cancer
790,Meningioma,Cancer
938,Basal cell carcinoma,Cancer
968,Esophageal cancer,Cancer
113,Adenomas,Cancer
118,Turcot syndrome,Cancer
132,Squamous cell carcinoma,Cancer
201,Nonsmall cell lung cancer,Cancer
574,Pituitary ACTH-secreting adenoma,Cancer
742,Lipoma,Cancer
795,Neurofibromatosis,Cancer
984,Paragangliomas,Cancer
985,Pheochromocytoma,Cancer
156,T-cell lymphoblastic leukemia,Cancer
181,von Hippel-Lindau syndrome,Cancer
191,Cowden disease,Cancer
192,Polyposis,Cancer
485,Cancer susceptibility,Cancer
691,Gastrointestinal stromal tumor,Cancer
692,Germ cell tumor,Cancer
772,Multiple endocrine neoplasia,Cancer
773,Parathyroid adenoma,Cancer
784,Cafe-au-lait spots,Cancer
785,Muir-Torre syndrome,Cancer
838,Neuroblastoma,Cancer
853,Medullary thyroid carcinoma,Cancer
1067,Li-Fraumeni syndrome,Cancer
1070,Osteosarcoma,Cancer
1145,Medulloblastoma,Cancer
112,"Adenoma, periampullary",Cancer
115,"Desmoid disease, hereditary",Cancer
116,Gardner syndrome,Cancer
198,Papillary serous carcinoma of the peritoneum,Cancer
225,Non-Hodgkin lymphoma,Cancer
252,Li Fraumeni syndrome,Cancer
253,Orolaryngeal cancer,Cancer
334,Pilomatricoma,Cancer
475,Cervical carcinoma,Cancer
693,Mast cell leukemia,Cancer
701,Stomach cancer,Cancer
748,Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome,Cancer
769,Adrenal adenoma,Cancer
771,Carcinoid tumor of lung,Cancer
794,Lynch cancer family syndrome II,Cancer
810,Neurofibrosarcoma,Cancer
833,Neurofibromatosis,Cancer
834,Neurobromatosis-Noonan syndrome,Cancer
835,Watson syndrome,Cancer
836,Schwannomatosis,Cancer
882,Dermatobrosarcoma protuberans,Cancer
883,Giant-cell fibroblastoma,Cancer
923,Adrenocortical carcinoma,Cancer
925,"Pigmented adrenocortical disease, primary isolated",Cancer
942,Lhermitte-Duclos syndrome,Cancer
943,Oligodendroglioma,Cancer
956,Retinoblastoma,Cancer
986,"Carcinoid tumors, intestinal",Cancer
987,Merkel cell carcinoma,Cancer
1025,Peutz-Jeghers syndrome,Cancer
1065,Adrenal cortical carcinoma,Cancer
1066,Histiocytoma,Cancer
1068,Multiple malignancy syndrome,Cancer
1069,Nasopharyngeal carcinoma,Cancer
1089,"Hemangioblastoma, cerebellar",Cancer
1120,Salivary adenoma,Cancer
1121,Uterine leiomyoma,Cancer
1132,Oligodontia-colorectal cancer syndrome,Cancer
1152,Mesothelioma,Cancer
1153,Sezary syndrome,Cancer
54,Cardiomyopathy,Cardiovascular
65,Hypertension,Cardiovascular
99,Myocardial infarction,Cardiovascular
110,Long QT syndrome,Cardiovascular
37,Coronary artery disease,Cardiovascular
327,Atrial fibrillation,Cardiovascular
78,Tetralogy of Fallot,Cardiovascular
79,Preeclampsia,Cardiovascular
226,Ventricular tachycardia,Cardiovascular
328,Atrioventricular block,Cardiovascular
402,Arrhythmogenic right ventricular dysplasia,Cardiovascular
100,Stroke,Cardiovascular
98,Atherosclerosis,Cardiovascular
424,Supravalvar aortic stenosis,Cardiovascular
453,Aortic aneurysm,Cardiovascular
552,Hypoplastic left heart syndrome,Cardiovascular
686,Acquired long QT syndrome,Cardiovascular
841,Coronary spasms,Cardiovascular
924,"Myxoma, intracardiac",Cardiovascular
954,Capillary malformations,Cardiovascular
960,Hyperproreninemia,Cardiovascular
977,Brugada syndrome,Cardiovascular
978,Heart block,Cardiovascular
979,Sick sinus syndrome,Cardiovascular
980,"Ventricular brillation, idiopathic",Cardiovascular
1034,Noncompaction of left ventricular myocardium,Cardiovascular
1242,Wolff-Parkinson-White syndrome,Cardiovascular
285,Ehlers-Danlos syndrome,Connective tissue disorder
236,Rheumatoid arthritis,Connective tissue disorder
290,Osteoarthritis,Connective tissue disorder
165,Cutis laxa,Connective tissue disorder
287,Marfan syndrome,Connective tissue disorder
408,Atelosteogenesis,Connective tissue disorder
457,Weill-Marchesani syndrome,Connective tissue disorder
1050,Loeys-Dietz syndrome,Connective tissue disorder
283,Caffey disease,Connective tissue disorder
284,Dissection of cervical arteries,Connective tissue disorder
312,Weissenbacher-Zweymuller syndrome,Connective tissue disorder
455,MASS syndrome,Connective tissue disorder
480,Apert syndrome,Connective tissue disorder
887,Ossication of the posterior longitudinal spinal ligaments,Connective tissue disorder
909,Nevo syndrome,Connective tissue disorder
302,Epidermolysis bullosa,Dermatological
414,Ectodermal dysplasia,Dermatological
146,Ichthyosis,Dermatological
401,Keratosis palmoplantaria striata,Dermatological
101,Ichthyosiform erythroderma,Dermatological
560,Erythrokeratoderma,Dermatological
703,Epidermolytic hyperkeratosis,Dermatological
856,Albinism,Dermatological
301,EBD,Dermatological
303,"Toenail dystrophy, isolated",Dermatological
304,Transient bullous of the newborn,Dermatological
404,Skin fragility-woolly hair syndrome,Dermatological
558,"Keratoderma, palmoplantar, with deafness",Dermatological
695,Piebaldism,Dermatological
702,Cyclic ichthyosis with epidermolytic hyperkeratosis,Dermatological
704,"Unna-Thost disease, nonepidermolytic",Dermatological
709,"Nevus, epidermal, epidermolytic hyperkeratotic type",Dermatological
1051,Self-healing collodion baby,Dermatological
1136,Incontinentia pigmenti,Dermatological
1198,Netherton syndrome,Dermatological
1306,Birt-Hogg-Dube syndrome,Dermatological
940,Holoprosencephaly,Developmental
796,Cleft palate,Developmental
341,Peters anomaly,Developmental
484,Saethre-Chotzen syndrome,Developmental
765,Angelman syndrome,Developmental
667,Leprechaunism,Developmental
798,Witkop syndrome,Developmental
948,Noonan syndrome,Developmental
55,Deafness,"Ear,Nose,Throat"
888,Enlarged vestibular aqueduct,"Ear,Nose,Throat"
889,Pendred syndrome,"Ear,Nose,Throat"
87,Diabetes mellitus,Endocrine
332,Hypothyroidism,Endocrine
541,MODY,Endocrine
786,Pseudohypoaldosteronism,Endocrine
227,Hyperparathyroidism,Endocrine
331,Graves disease,Endocrine
550,Growth hormone,Endocrine
575,Acromegaly,Endocrine
1048,Goiter,Endocrine
1053,Thyroid hormone resistance,Endocrine
136,Androgen insensitivity,Endocrine
138,Perineal hypospadias,Endocrine
218,Thyrotoxic periodic paralysis,Endocrine
228,Hypocalcemia,Endocrine
229,Hypocalciuric hypercalcemia,Endocrine
365,Angiotensin I-converting enzyme,Endocrine
434,Estrogen resistance,Endocrine
578,Pseudohypoparathyroidism,Endocrine
579,Somatotrophinoma,Endocrine
665,Hyperproinsulinemia,Endocrine
770,"Angiofibroma, sporadic",Endocrine
774,"Prolactinoma, hyperparathyroidism, carcinoid syndrome",Endocrine
1012,Infundibular hypoplasia and hypopituitarism,Endocrine
1047,Autoimmune thyroid disease,Endocrine
1072,Hyperthyroidism,Endocrine
1073,Total iodide organication defect,Endocrine
1078,Hyperthroidism,Endocrine
411,Hirschsprung disease,Gastrointestinal
177,Hypercholanemia,Gastrointestinal
669,Pancreatic agenesis,Gastrointestinal
961,"Colonic aganglionosis, total, with small bowel involvement",Gastrointestinal
48,Blood group,Hematological
86,Hemolytic anemia,Hematological
41,Anemia,Hematological
239,Thrombophilia,Hematological
448,Factor x deficiency,Hematological
109,Spherocytosis,Hematological
235,Platelet defect/deficiency,Hematological
423,Neutropenia,Hematological
429,Elliptocytosis,Hematological
447,Thrombocytopenia,Hematological
467,Dysfibrinogenemia,Hematological
446,Hemorrhagic diathesis,Hematological
466,Afibrinogenemia,Hematological
681,Polycythemia,Hematological
682,Thrombocythemia,Hematological
963,Rh-negative blood type,Hematological
129,Sea-blue histiocyte disease,Hematological
316,"Hemosiderosis, systemic, due to aceruloplasminemia",Hematological
342,Coumarin resistance,Hematological
422,"Hematopoiesis, cyclic",Hematological
486,Hypofibrinogenemia,Hematological
535,Dyserythropoietic anemia,Hematological
536,Macrothrombocytopenia,Hematological
542,Adult i phenotype,Hematological
606,Hemolytic-uremic syndrome,Hematological
670,Macrocytic anemia,Hematological
680,"Myelofibrosis, idiopathic",Hematological
817,Epstein syndrome,Hematological
819,May-Hegglin anomaly,Hematological
820,Sebastian syndrome,Hematological
884,Hypereosinophilic syndrome,Hematological
962,Rh-mod syndrome,Hematological
1020,Pyropoikilocytosis,Hematological
1082,Dystransthyretinemic hyperthyroxinemia,Hematological
208,Complementary component deficiency,Immunological
63,Severe combined immunodeciency,Immunological
245,Malaria,Immunological
661,Atopy,Immunological
778,Bare lymphocyte syndrome,Immunological
119,Autoimmune disease,Immunological
133,Systemic lupus erythematosus,Immunological
280,HIV,Immunological
953,Omenn syndrome,Immunological
154,Ataxia-telangiectasia,Immunological
209,Combined immunodeficiency,Immunological
463,Viral infection,Immunological
1061,Sepsis,Immunological
62,Adenosine deaminase deficiency,Immunological
249,Listeria monocytogenes,Immunological
366,"SARS, progression of",Immunological
663,Graft-versus-host disease,Immunological
664,Allergic rhinitis,Immunological
694,Mastocytosis with associated hematologic disorder,Immunological
792,Myeloperoxidase deficiency,Immunological
868,Leprosy,Immunological
1029,Wegener granulomatosis,Immunological
1094,Wiskott-Aldrich syndrome,Immunological
1238,IgE levels QTL,Immunological
125,Hypercholesterolemia,Metabolic
736,Lipodystrophy,Metabolic
121,Apolipoprotein deficiency,Metabolic
123,Hypertriglyceridemia,Metabolic
180,Maple syrup urine disease,Metabolic
880,Pyruvate dehydrogenase deciency,Metabolic
919,Insulin resistance,Metabolic
38,HDL cholesterol level QTL,Metabolic
126,Abetalipoproteinemia,Metabolic
128,Hyperlipoproteinemia,Metabolic
131,Urolithiasise,Metabolic
238,Homocystinuria,Metabolic
322,"CPT deficiency, hepatic",Metabolic
930,Hyperprolinemia,Metabolic
39,Tangier disease,Metabolic
124,Hypoalphalipoproteinemia,Metabolic
127,Hypobetalipoproteinemia,Metabolic
147,Placental steroid sulfatase deciency,Metabolic
184,GRACILE syndrome,Metabolic
231,Creatine phosphokinase,Metabolic
317,Hypoceruloplasminemia,Metabolic
363,Dopamine beta-hydroxylase deciency,Metabolic
523,Favism,Metabolic
524,G6PD deficiency,Metabolic
540,Hyperinsulinism,Metabolic
585,Glutathione synthetase deciency,Metabolic
605,"Sandho disease, infantile, juvenile, and adult forms",Metabolic
687,Persistent hyperinsulinemic hypoglycemia of infancy,Metabolic
897,Myoglobinuria/hemolysis due to PGK deciency,Metabolic
996,Fanconi-Bickel syndrome,Metabolic
1027,Hypoglycemia,Metabolic
1285,3-methylglutaconicaciduria,Metabolic
202,Fanconi anemia,Multiple
822,Usher syndrome,Multiple
186,Mitochondrial complex deciency,Multiple
419,Dejerine-Sottas disease,Multiple
782,Waardenburg syndrome,Multiple
292,Stickler syndrome,Multiple
464,Walker-Warburg syndrome,Multiple
323,Rubenstein-Taybi syndrome,Multiple
417,Waardenburg-Shah syndrome,Multiple
471,Kallmann syndrome,Multiple
493,Rieger syndrome,Multiple
545,Alexander disease,Multiple
559,Vohwinkel syndrome,Multiple
685,Jervell and Lange-Nielsen syndrome,Multiple
793,Roussy-Levy syndrome,Multiple
815,Carney complex,Multiple
77,Alagille syndrome,Multiple
167,Occipital horn syndrome,Multiple
310,Marshall syndrome,Multiple
403,Dilated cardiomyopathy with woolly hair and keratoderma,Multiple
415,Shah-Waardenburg syndrome,Multiple
416,ABCD syndrome,Multiple
425,Williams-Beuren syndrome,Multiple
456,Shprintzen-Goldberg syndrome,Multiple
468,Aarskog-Scott syndrome,Multiple
481,Beare-Stevenson cutis gyrata syndrome,Multiple
482,Craniofacial-skeletal-dermatologic dysplasia,Multiple
555,Bart-Pumphrey syndrome,Multiple
556,Hystrix-like ichthyosis with deafness,Multiple
557,Keratitis-ichthyosis-deafness syndrome,Multiple
563,Simpson-Golabi-Behmel syndrome,Multiple
576,McCune-Albright syndrome,Multiple
633,Costello syndrome,Multiple
668,Rabson-Mendenhall syndrome,Multiple
716,Laryngoonychocutaneous syndrome,Multiple
781,Tietz syndrome,Multiple
816,Trismus-pseudocomptodactyly syndrome,Multiple
818,Fechtner syndrome,Multiple
826,Nijmegen breakage syndrome,Multiple
871,Craniofacial-deafness-hand syndrome,Multiple
912,Neuroectodermal tumors,Multiple
939,Basal cell nevus syndrome,Multiple
944,VATER association with hydrocephalus,Multiple
947,Leopard syndrome,Multiple
949,Zlotogora-Ogur syndrome,Multiple
955,Parkes Weber syndrome,Multiple
969,Coffin-Lowry syndrome,Multiple
1016,Yemenite deaf-blind hypopigmentation syndrome,Multiple
1033,Barth syndrome,Multiple
1100,Frasier syndrome,Multiple
1102,WAGR syndrome,Multiple
1227,"Craniofacial anomalies, empty sella turcica, corneal endothelial changes",Multiple
1232,"Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked",Multiple
1305,Proud syndrome,Multiple
223,Muscular dystrophy,Muscular
53,Myopathy,Muscular
140,Spinal muscular atrophy,Muscular
266,Myasthenic syndrome,Muscular
671,Myelodysplastic syndrome,Muscular
272,Myotonia congenita,Muscular
385,Becker muscular dystrophy,Muscular
426,Emery-Dreifuss muscular dystrophy,Muscular
814,Central core disease,Muscular
232,Rippling muscle disease,Muscular
386,Duchenne muscular dystrophy,Muscular
974,"Cramps, potassium-aggravated",Muscular
976,Paramyotonia congenita,Muscular
1130,Miyoshi myopathy,Muscular
1174,Myotilinopathy,Muscular
81,Mental retardation,Neurological
390,Charcot-Marie-Tooth disease,Neurological
220,Epilepsy,Neurological
213,Spinocereballar ataxia,Neurological
30,Alzheimer disease,Neurological
185,Leigh syndrome,Neurological
364,Parkinson disease,Neurological
640,Spastic ataxia/paraplegia,Neurological
420,Neuropathy,Neurological
120,Amyloidosis,Neurological
367,Amyotrophic lateral sclerosis,Neurological
751,Dementia,Neurological
219,Ataxia,Neurological
158,Migraine,Neurological
369,Lissencephaly,Neurological
602,Huntington disease,Neurological
527,Myoclonic epilepsy,Neurological
36,Cerebral amyloid angiopathy,Neurological
210,Cerebellar ataxia,Neurological
211,Episodic ataxia,Neurological
217,Malignant hyperthermia susceptibility,Neurological
307,Intervertebral disc disease,Neurological
370,Subcortical laminar heterotopia,Neurological
616,Creutzfeldt-Jakob disease,Neurological
767,Rett syndrome,Neurological
779,Multiple sclerosis,Neurological
157,Alternating hemiplegia of childhood,Neurological
166,Menkes disease,Neurological
188,Memory impairment,Neurological
212,"Hemiplegic migraine, familial",Neurological
368,"Lower motor neuron disease, progressive, without sensory symptoms",Neurological
374,Jensen syndrome,Neurological
375,Mohr-Tranebjaerg syndrome,Neurological
376,Meniere disease,Neurological
442,Branchiootic syndrome,Neurological
689,Myokymia with neonatal epilepsy,Neurological
752,Pallidopontonigral degeneration,Neurological
753,Supranuclear palsy,Neurological
754,Tauopathy and respiratory failure,Neurological
766,PPM-X syndrome,Neurological
829,Norrie disease,Neurological
852,Insensitivity to pain,Neurological
911,Pelizaeus-Merzbacher disease,Neurological
928,Gerstmann-Straussler disease,Neurological
929,Prion disease with protracted course,Neurological
935,Pick disease,Neurological
975,Hyperkalemic periodic paralysis,Neurological
1003,"Creatine deciency syndrome, X-linked",Neurological
1015,PCWH,Neurological
1080,Amyloid neuropathy,Neurological
1221,Silver spastic paraplegia syndrome,Neurological
1270,Primary lateral sclerosis,Neurological
1289,Convulsions,Neurological
1303,Infantile spasm syndrome,Neurological
1304,Partington syndrome,Neurological
70,Obesity,Nutritional
76,"Leanness, inherited",Nutritional
644,Anorexia nervosa,Nutritional
45,Retinitis pigmentosa,Ophthamological
325,Cataract,Ophthamological
42,Cone dystrophy,Ophthamological
122,Corneal dystrophy,Ophthamological
324,Leber congenital amaurosis,Ophthamological
44,Macular dystrophy,Ophthamological
215,Night blindness,Ophthamological
607,Macular degeneration,Ophthamological
340,Glaucoma,Ophthamological
441,Anterior segment anomalies and cataract,Ophthamological
851,Retinal cone dsytrophy,Ophthamological
43,Fundus albipunctatus,Ophthamological
282,Achromatopsia,Ophthamological
744,Exudative vitreoretinopathy,Ophthamological
46,Stargardt disease,Ophthamological
454,Ectopia,Ophthamological
491,Iridogoniodysgenesis,Ophthamological
858,Optic atrophy,Ophthamological
873,"Coloboma, ocular",Ophthamological
293,Wagner syndrome,Ophthamological
305,Fuchs endothelial corneal dystrophy,Ophthamological
490,Axenfeld anomaly,Ophthamological
492,Iris hypoplasia and glaucoma,Ophthamological
828,Coats disease,Ophthamological
872,"Aniridia, type II",Ophthamological
874,Eye anomalies,Ophthamological
875,Foveal hypoplasia,Ophthamological
876,Keratitis,Ophthamological
878,Optic nerve hypoplasia/aplasia,Ophthamological
904,Ring dermoid of cornea,Ophthamological
958,"Butterfly dystrophy, retinal",Ophthamological
959,"Foveomacular dystrophy, adult-onset, with choroidal neovascularization",Ophthamological
965,Bothnia retinal dystrophy,Ophthamological
966,Newfoundland rod-cone dystrophy,Ophthamological
1091,"Maculopathy, bull's-eye",Ophthamological
1092,Vitelliform macular dystrophy,Ophthamological
1181,Enhanced S-cone syndrome,Ophthamological
1208,Pigmented paravenous chorioretinal atrophy,Ophthamological
1228,Keratoconus,Ophthamological
130,Schizophrenia,Psychiatric
570,Autism,Psychiatric
189,Obsessive-compulsive disorder,Psychiatric
270,Nicotine addiction,Psychiatric
526,Insomnia,Psychiatric
1245,Asperger syndrome,Psychiatric
645,Seasonal affective disorder,Psychiatric
1002,Anxiety-related personality traits,Psychiatric
164,Renal tubular acidosis,Renal
80,Renal tubular dysgenesis,Renal
216,Hypokalemic periodic paralysis,Renal
982,Liddle syndrome,Renal
608,Nephropathy-hypertension,Renal
1040,"Glomerulocystic kidney disease, hypoplastic",Renal
1099,Denys-Drash syndrome,Renal
1101,Mesangial sclerosis,Renal
68,Asthma,Respiratory
187,Central hypoventilation syndrome,Respiratory
902,Emphysema,Respiratory
1307,"Pneumothorax, primary spontaneous",Respiratory
74,Spondyloepiphyseal dysplasia,Skeletal
470,Jackson-Weiss syndrome,Skeletal
472,Pfeiffer syndrome,Skeletal
476,Crouzon syndrome,Skeletal
483,Craniosynostosis,Skeletal
797,Hypodontia,Skeletal
799,Parietal foramina,Skeletal
289,Kniest dysplasia,Skeletal
291,SMED Strudwick type,Skeletal
313,Pseudoachondroplasia,Skeletal
409,Diastrophic dysplasia,Skeletal
473,Achondroplasia,Skeletal
477,Hypochondroplasia,Skeletal
478,Muenke syndrome,Skeletal
479,"Thanatophoric dysplasia, types I and II",Skeletal
502,Larson syndrome,Skeletal
503,Spondylocarpotarsal synostosis syndrome,Skeletal
553,Oculodentodigital dysplasia,Skeletal
554,Syndactyly,Skeletal
627,Vertical talus,Skeletal
877,Morning glory disc anomaly,Skeletal
879,Oligodontia,Skeletal
991,Solitary median maxillary central incisor,Skeletal
69,"Beta-2-adrenoreceptor agonist, reduced response to",Unclassified
134,Aquaporin-1 deficiency,Unclassified
294,"Aneurysm, familial arterial",Unclassified
380,Benzene toxicity,Unclassified
643,Alcohol dependence,Unclassified
747,van Buchem disease,Unclassified
842,Placental abruption,Unclassified
941,Bannayan-Riley-Ruvalcaba syndrome,Unclassified
1081,"Carpal tunnel syndrome, familial",Unclassified