378465 Neuropathy 55612 Kindler_syndrome 55343 Congenital_disorder_of_glycosylation 4026 Leukemia Lipoma 84916 Cirrhosis 4023 "Chylomicronemia_syndrome,_familial" Lipoprotein_lipase_deficiency Combined_hyperlipemia 10892 MALT_lymphoma 10891 Lipodystrophy 7517 Breast_cancer Melanoma 345 Apolipoprotein_deficiency 7512 Angioedema 3998 Combined_factor_V_and_VIII_deficiency 348 Alzheimer_disease Hyperlipoproteinemia Myocardial_infarction Sea-blue_histiocyte_disease 51062 Spastic_ataxia/paraplegia 960 Blood_group 4935 Ocular_albinism 6794 Melanoma Pancreatic_cancer Peutz-Jeghers_syndrome 6792 Rett_syndrome 10962 Leukemia 2316 Frontometaphyseal_dysplasia Heterotopia Melnick-Needles_syndrome Otopalatodigital_syndrome 2317 Atelosteogenesis Larson_syndrome Spondylocarpotarsal_synostosis_syndrome 291 Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions 8301 Leukemia 3779 Hypertension 56052 Congenital_disorder_of_glycosylation 270 Myoadenylate_deaminase_deficiency 272 AMP_deaminase_deficiency 55835 Microcephaly 275 Glycine_encephalopathy 4653 Glaucoma 26154 Ichthyosis 80207 3-methylglutaconicaciduria Optic_atrophy 6584 Carnitine_deficiency 2263 Apert_syndrome Beare-Stevenson_cutis_gyrata_syndrome Craniofacial-skeletal-dermatologic_dysplasia Craniosynostosis Crouzon_syndrome Gastric_cancer Jackson-Weiss_syndrome Pfeiffer_syndrome Saethre-Chotzen_syndrome 2260 Jackson-Weiss_syndrome Kallmann_syndrome Pfeiffer_syndrome 2261 Achondroplasia Bladder_cancer Cervical_carcinoma Colon_cancer Crouzon_syndrome Hypochondroplasia Muenke_syndrome "Thanatophoric_dysplasia,_types_I_and_II" 2266 Dysfibrinogenemia Hypofibrinogenemia Thrombophilia 2264 Cancer_susceptibility 9526 Congenital_disorder_of_glycosylation 124590 Usher_syndrome 103 Dyschromatosis 100 Adenosine_deaminase_deficiency Severe_combined_immunodeficiency 5824 Zellweger_syndrome 4810 Nance-Horan_syndrome 2048 Prostate_cancer 57502 Asperger_syndrome Autism Mental_retardation 9414 Hypercholanemia 26128 Goldberg-Shprintzen_megacolon_syndrome 54880 Microphthalmia Oculofaciocardiodental_syndrome 9342 "Cerebral_dysgenesis,_neuropathy,_ichthyosis,_and_palmoplantar_keratoderma_syndrome" 9639 "Slowed_nerve_conduction_velocity,_AD" 83872 Macular_degeneration 344 Hyperlipoproteinemia 3514 Kappa_light_chain_deficiency 2688 Isolated_growth_hormone_deficiency 84059 Convulsions Usher_syndrome 2683 Congenital_disorder_of_glycosylation 10560 Thiamine-responsive_megaloblastic_anemia_syndrome 10564 Periventricular_heterotopia_with_microcephaly 91 Pancreatic_cancer 93 Left-right_axis_malformations 94 Hereditary_hemorrhagic_telangiectasia 1991 "Hematopoiesis,_cyclic" Neutropenia 1621 Dopamine_beta-hydroxylase_deficiency Parkinson_disease 5184 Prolidase_deficiency 1629 Maple_syrup_urine_disease 5189 Adrenoleukodystrophy Refsum_disease Zellweger_syndrome 256297 Diabetes_mellitus 3209 Guttmacher_syndrome Hand-foot-uterus_syndrome 8838 Arthropathy Spondyloepiphyseal_dysplasia 338435 Spinocereballar_ataxia 285440 Bietti_crystalline_corneoretinal_dystrophy 8833 Leukemia 554 Nephrogenic_syndrome_of_inappropriate_antidiuresis Diabetes_insipidus 551 Diabetes_insipidus 64241 Sitosterolemia 79001 Vitamin_K-dependent_coagulation_defect Warfarin_resistance/sensitivity 5459 Deafness 7078 Sorsby_fundus_dystrophy 3798 Spastic_ataxia/paraplegia 5456 Deafness 1756 Becker_muscular_dystrophy Cardiomyopathy Duchenne_muscular_dystrophy 1755 Glioblastoma 29760 Hypoglobulinemia_and_absent_B_cells 79628 Charcot-Marie-Tooth_disease 4256 Keutel_syndrome 5538 Ceroid_lipofuscinosis Ceroid-lipofuscinosis 1285 Alport_syndrome 1287 Alport_syndrome 1286 Alport_syndrome "Hematuria,_familial_benign" 1281 Ehlers-Danlos_syndrome "Aneurysm,_familial_arterial" 1280 "Achondrogenesis-hypochondrogenesis,_type_II" Kniest_dysplasia Osteoarthritis SMED_Strudwick_type Stickler_syndrome Wagner_syndrome 1282 Porencephaly 1289 Ehlers-Danlos_syndrome 1288 Leiomyomatosis 686 Biotinidase_deficiency 1577 Hypertension 682 Blood_group 5521 Spinocereballar_ataxia 8546 Hermansky-Pudlak_syndrome 8013 Chondrosarcoma 8540 Rhizomelic_chondrodysplasia_punctata 7454 Neutropenia Thrombocytopenia Wiskott-Aldrich_syndrome 7450 von_Willebrand_disease 5627 Protein_S_deficiency 5626 Pituitary_hormone_deficiency 5625 Hyperprolinemia Schizophrenia 5624 Thrombophilia 2743 Hyperekplexia 5621 Creutzfeldt-Jakob_disease Gerstmann-Straussler_disease Huntington_disease Insomnia Prion_disease_with_protracted_course 1371 Coproporphyria Harderoporphyrinuria 8492 Mental_retardation 1373 Carbamoylphosphate_synthetase_I_deficiency 1374 "CPT_deficiency,_hepatic" 401 Fibrosis 1376 "CPT_deficiency,_hepatic" Myopathy 1378 Blood_group 28962 Osteopetrosis 23474 Ethylmalonic_encephalopathy 4595 Adenomas Colon_cancer Gastric_cancer 55624 Muscle-eye-brain_disease 5995 Retinitis_pigmentosa 5994 Bare_lymphocyte_syndrome 5993 Bare_lymphocyte_syndrome 4846 Alzheimer_disease Hypertension Placental_abruption Coronary_spasms 5663 Alzheimer_disease Dementia Pick_disease 51168 Deafness 5660 Gaucher_disease Metachromatic_leukodystrophy Combined_SAP_deficiency 55755 Microcephaly 2038 Spherocytosis 65266 Pseudohypoaldosteronism 2308 Rhabdomyosarcoma 4729 Parkinson_disease 4728 Leigh_syndrome 2301 Anterior_segment_anomalies_and_cataract 4724 Leigh_syndrome Mitochondrial_complex_deficiency 2303 Lymphedema Yellow_nail_syndrome 4726 "Complex_mitochondrial_respiratory_chain,_deficiency_of" 4720 Mitochondrial_complex_deficiency 4723 Alexander_disease Leigh_syndrome Mitochondrial_complex_deficiency 4722 Leigh_syndrome 11281 Wilms_tumor 11285 Ehlers-Danlos_syndrome 4620 Inclusion_body_myopathy 4624 Atrial_fibrillation Cardiomyopathy 240 Asthma Atherosclerosis 4626 Carney_complex Trismus-pseudocomptodactyly_syndrome 242 Ichthyosiform_erythroderma 249 Hypophosphatasia Odontohypophosphatasia 2271 Fumarase_deficiency Leiomyomatosis Multiple_cutaneous_and_uterine_leiomyomata 5913 Myasthenic_syndrome 9241 Stapes_ankylosis_syndrome_without_symphalangism "Symphalangism,_proximal" Synostoses_syndrome Tarsal-carpal_coalition_syndrome 9244 Cold-induced_sweating_syndrome 9247 Hypoparathyroidism 7852 "Myelokathexis,_isolated" WHIM_syndrome 178 Glycogen_storage_disease 176 Spondyloepiphyseal_dysplasia 175 Aspartylglucosaminuria 174 Hereditary_persistence_of_fetal_hemoglobin 2053 Hypercholesterolemia 2052 Hypercholanemia Preeclampsia 2055 Ceroid-lipofuscinosis 2057 Erythrocytosis 30061 Hemochromatosis 3690 Glanzmann_thrombasthenia 3691 Epidermolysis_bullosa 341640 Fraser_syndrome 9401 RAPADILINO_syndrome Rothmund-Thomson_syndrome 9409 Zellweger_syndrome 404672 Trichothiodystrophy 3778 Generalized_epilepsy 10157 Hyperlysinemia 22800 Ovarian_cancer 10395 Colon_cancer 10397 Charcot-Marie-Tooth_disease 9622 Amelogenesis_imperfecta 7352 Obesity 9627 Parkinson_disease 2697 Atrioventricular_block Oculodentodigital_dysplasia Syndactyly Hypoplastic_left_heart_syndrome 84062 Hermansky-Pudlak_syndrome 2694 Intrinsic_factor_deficiency 54413 Asperger_syndrome Autism 2692 Growth_hormone 2690 Laron_dwarfism Short_stature 54982 Ceroid-lipofuscinosis 3233 Leukemia 3236 Charcot-Marie-Tooth_disease Vertical_talus 24140 Mental_retardation 10084 Renpenning_syndrome 5194 Adrenoleukodystrophy Zellweger_syndrome 3239 Brachydactyly Synpolydactyly 5191 Refsum_disease Rhizomelic_chondrodysplasia_punctata 5190 Peroxisomal_biogenesis_disorder 5193 Peroxisomal_biogenesis_disorder 5192 Adrenoleukodystrophy Zellweger_syndrome 8842 Retinal_cone_dsytrophy 3356 Alcohol_dependence Anorexia_nervosa Obsessive-compulsive_disorder Schizophrenia Seasonal_affective_disorder 54345 Hypotrichosis 5449 Pituitary_hormone_deficiency 7068 Thyroid_hormone_resistance 5443 Obesity 7066 Thrombocythemia 5447 "Adrenal_hyperplasia,_congenital" Antley-Bixler_syndrome "Disordered_steroidogenesis,_isolated" 5445 Coronary_artery_disease 5444 Coronary_artery_disease 1760 Myotonic_dystrophy 1767 Ciliary_dyskinesia Kartagener_syndrome 83605 Cerebral_cavernous_malformations 1140 Myasthenic_syndrome 1141 Epilepsy 8629 Epilepsy 1144 Myasthenic_syndrome 1145 Myasthenic_syndrome 8625 MHC_class_II_deficiency 8626 ADULT_syndrome EEC_syndrome Hay-Wells_syndrome Limb-mammary_syndrome Rapp-Hodgkin_syndrome Split-hand/foot_malformation 123606 Spastic_ataxia/paraplegia 5506 Insulin_resistance 4982 Paget_disease 1545 Glaucoma Peters_anomaly 1540 "Cylindromatosis,_familial" 695 Agammaglobulinemia XLA_and_isolated_growth_hormone_deficiency 699 Colon_cancer 1548 Coumarin_resistance Nicotine_addiction 540 Wilson_disease 546 Alpha-thalassemia/mental_retardation_syndrome Chudley-Lowry_syndrome Juberg-Marsidi_syndrome Smith-Fineman-Myers_syndrome Sutherland-Haan_syndrome-like 545 Seckel_syndrome 549 3-methylglutaconic_aciduria 23607 Glomerulosclerosis 23600 Alpha-methylacyl-CoA_racemase_deficiency 10 Slow_acetylation 8028 Leukemia 8029 Megaloblastic_anemia 8022 Pituitary_hormone_deficiency 8021 Leukemia 6569 Osteoporosis Urolithiasise 51119 Shwachman-Diamond_syndrome 6567 Allan-Herndon-Dudley_syndrome 55109 Klippel-Trenaunay_syndrome 6563 Blood_group 415 Chondrodysplasia_punctata 410 Metachromatic_leukodystrophy 411 Maroteaux-Lamy_syndrome 412 Ichthyosis Placental_steroid_sulfatase_deficiency 18 GABA-transaminase_deficiency 129880 Bardet-Biedl_syndrome 25953 Paroxysmal_kinesigenic_choreoathetosis 1387 Rubenstein-Taybi_syndrome 3827 Fitzgerald_factor_deficiency High-molecular-weight_kininogen_deficiency Kininogen_deficiency 65078 Schizophrenia 8443 Chondrodysplasia_punctata 4282 Rheumatoid_arthritis 4281 Opitz_G_syndrome 4286 Tietz_syndrome Waardenburg_syndrome 4287 Machado-Joseph_disease 4284 Cataract 368 Pseudoxanthoma_elasticum 7535 Selective_T-cell_defect 367 Androgen_insensitivity Breast_cancer Perineal_hypospadias Prostate_cancer Spinal_muscular_atrophy 51592 Thyroid_carcinoma 7531 Miller-Dieker_lissencephaly 360 Blood_group 65217 Deafness Usher_syndrome 383 Argininemia 4758 Sialidosis 10984 Beckwith-Wiedemann_syndrome 6777 Growth_hormone Leukemia 6770 Lipoid_adrenal_hyperplasia 6772 Mycobacterial_infection STAT1_deficiency 5873 Griscelli_syndrome 55636 CHARGE_syndrome 55630 Acrodermatitis_enteropathica 3759 Long_QT_syndrome 3758 Bartter_syndrome 5376 Charcot-Marie-Tooth_disease Dejerine-Sottas_disease Neuropathy Roussy-Levy_syndrome 3753 Jervell_and_Lange-Nielsen_syndrome Long_QT_syndrome 3757 Acquired_long_QT_syndrome Long_QT_syndrome 4633 Cardiomyopathy 2192 Synpolydactyly 4634 Cardiomyopathy 55811 Hypercalciuria 259266 Microcephaly 2201 "Contractural_arachnodactyly,_congenital" 2202 Doyne_honeycomb_degeneration_of_retina 2203 Fructose-bisphosphatase_deficiency 2206 Asthma 2209 "IgG_receptor_I,_phagocytic,_familial_deficiency_of" 57679 Amyotrophic_lateral_sclerosis Primary_lateral_sclerosis Spastic_ataxia/paraplegia 51131 Asthma IgE_levels_QTL 51135 IRAK4_deficiency 6683 Spastic_ataxia/paraplegia 6687 Spastic_ataxia/paraplegia 9509 Ehlers-Danlos_syndrome 6785 Stargardt_disease Macular_dystrophy 7849 Hypothyroidism 120892 Parkinson_disease 7841 Glucosidase_I_deficiency 7840 (null) 4838 Situs_ambiguus 3689 Leukocyte_adhesion_deficiency 6352 HIV 84100 Bardet-Biedl_syndrome 4830 Neuroblastoma 4524 Homocystinuria 4522 "Neural_tube_defects,_maternal_risk_of" Spina_bifida 6197 Coffin-Lowry_syndrome Mental_retardation 2516 Sex_reversal Adrenocortical_insufficiency 2517 Fucosidosis 2512 Hyperferritinemia-cataract_syndrome Basal_ganglia_disease 2736 Pituitary_anomalies_with_holoprosencephaly-like_features 2737 Acrocallosal_syndrome Greig_cephalopolysyndactyly_syndrome Pallister-Hall_syndrome Polydactyly 2730 Myocardial_infarction 2731 Glycine_encephalopathy 10166 Hyperornithinemia-hyperammonemia-homocitrullinemia_syndrome 10165 Citrullinemia 2739 Autism 5290 Breast_cancer Colon_cancer Ovarian_cancer 57096 Cone_dystrophy Leber_congenital_amaurosis 64327 Acheiropody 64324 Beckwith-Wiedemann_syndrome Sotos_syndrome Weaver_syndrome 5053 Hyperphenylalaninemia Phenylketonuria 1815 Autonomic_nervous_system_dysfunction 1816 Attention-deficit_hyperactivity_disorder Blepharospasm Dystonia 1811 "Chloride_diarrhea,_congenital,_Finnish_type" 1813 Dystonia 145226 Leber_congenital_amaurosis 7201 Thyrotropin-releasing_hormone_deficiency 6223 Anemia 675 Breast_cancer Fanconi_anemia Pancreatic_cancer Prostate_cancer Wilms_tumor 63869 Psoraisis 2165 Factor_x_deficiency 672 Breast_cancer Ovarian_cancer Papillary_serous_carcinoma_of_the_peritoneum 7337 Angelman_syndrome 1603 "Temperature-sensitive_apoptosis,_cellular" 1604 Blood_group 8572 Osteoporosis 2162 Factor_x_deficiency 5476 Galactosialidosis 10216 Camptodactyly-arthropathy-coxa_varapericarditis_syndrome 3329 Spastic_ataxia/paraplegia 5274 Encephalopathy 5277 Paroxysmal_nocturnal_hemoglobinuria 1773 Systemic_lupus_erythematosus 7050 Holoprosencephaly 7051 Ichthyosiform_erythroderma Ichthyosis Self-healing_collodion_baby 7056 Myocardial_infarction Thrombophilia 7054 Segawa_syndrome 3977 Stuve-Wiedemann_syndrome/Schwartz-Jampel_type_2_syndrome 6997 Forebrain_defects 7291 Saethre-Chotzen_syndrome 8144 Myasthenia 5519 Lung_cancer 58 Myopathy 2998 Glycogen_storage_disease 3039 Erythremias Heinz_body_anemia Methemoglobinemia Thalassemias 1557 Mephenytoin_poor_metabolizer Opremazole_poor_metabolizer Proguanil_poor_metabolizer 2990 Mucopolysaccharidosis 1559 Tolbutamide_poor_metabolizer Warfarin_resistance/sensitivity 2993 Blood_group 3030 "Fatty_liver,_acute,_of_pregnancy" HELLP_syndrome LCHAD_deficiency Trifunctional_protein_deficiency 2995 Blood_group Malaria 3032 Trifunctional_protein_deficiency 3033 3-hydroxyacyl-CoA_dehydrogenase_deficiency 3034 Histidinemia 8701 Kartagener_syndrome Situs_ambiguus 8706 Blood_group 538 Cutis_laxa Menkes_disease Occipital_horn_syndrome 319100 Schizophrenia 2994 Blood_group 9990 Agenesis_of_the_corpus_callosum_with_peripheral_neuropathy 9992 Atrial_fibrillation Long_QT_syndrome 9997 "Cardioencephalomyopathy,_fatal_infantile,_due_to_cytochrome_c_oxidase_deficiency" 6519 Cystinuria Homozygous_2p16_deletion_syndrome 50485 Schimke_immunoosseous_dysplasia 5133 Systemic_lupus_erythematosus 6513 "Glucose_transport_defect,_blood-brain_barrier" 6514 Diabetes_mellitus Fanconi-Bickel_syndrome 6517 Diabetes_mellitus 420 Blood_group 427 Farber_lipogranulomatosis 3811 AIDS 3816 "Kallikrein,_decreased_urinary_activity_of" 3815 Gastrointestinal_stromal_tumor Germ_cell_tumor Leukemia Mast_cell_leukemia Mastocytosis_with_associated_hematologic_disorder Piebaldism 23495 Immunoglobulin_A_deficiency 127534 Erythrokeratoderma 2539 Favism G6PD_deficiency Hemolytic_anemia 8456 "T-cell_immunodeficiency,_congenital_alopecia,_and_nail_dystrophy" 4692 Prader-Willi_syndrome 27019 Ciliary_dyskinesia Kartagener_syndrome 147138 Epidermodysplasia_verruciformis 4292 Cafe-au-lait_spots Colon_cancer Muir-Torre_syndrome Turcot_syndrome 117531 Deafness 23389 "Transposition_of_great_arteries,_dextro-looped" 50506 Hypothyroidism 7546 Holoprosencephaly 7547 Heterotaxy 3459 BCG_infection H._pylori_infection Mycobacterial_infection Tuberculosis 55806 Alopecia_universalis Atrichia_with_papular_lesions 8031 Thyroid_carcinoma 4552 "Homocystinuria-megaloblastic_anemia,_cbl_E_type" Spina_bifida 4747 Charcot-Marie-Tooth_disease 4744 Amyotrophic_lateral_sclerosis 5860 Phenylketonuria 2182 Mental_retardation 2187 Fanconi_anemia 229 Fructose_intolerance 4609 Burkitt_lymphoma 78987 Atrioventricular_block 2189 Fanconi_anemia 2188 Fanconi_anemia 10312 Osteopetrosis 4601 Neurofibrosarcoma Prostate_cancer 2213 Lymphoma 2212 Lupus_erythematosus 2214 Neutropenia Viral_infection 2218 Muscular_dystrophy Walker-Warburg_syndrome 51128 Anderson_disease Chylomicron_retention_disease 27232 Glycine_encephalopathy 6690 Fibrocalculous_pancreatic_diabetes Pancreatitis Tropical_calcific_pancreatitis 6697 Sepiapterin_reductase_deficiency 153 Congestive_heart_failure Resting_heart_rate 152 Congestive_heart_failure 155 Obesity 6901 Barth_syndrome Cardiomyopathy Noncompaction_of_left_ventricular_myocardium 158 Adenylosuccinase_deficiency 6341 "Hepatic_failure,_early_onset,_and_neurologic_disorder" 6340 Liddle_syndrome Pseudohypoaldosteronism 8132 Polycystic_kidney_disease 9420 Giant_cell_hepatitis 200576 Corneal_dystrophy 6908 Huntington_disease Parkinson_disease Spinocereballar_ataxia 9607 Obesity 2720 GM-gangliosidosis Mucopolysaccharidosis 57338 Huntington_disease 2729 Hemolytic_anemia 7941 Asthma Atopy Platelet_defect/deficiency 5048 Lissencephaly Subcortical_laminar_heterotopia 83844 Sertoli-cell-only_syndrome 1807 Dihydropyrimidinuria 1806 "Fluorouracil_toxicity,_sensitivity_to" Thymine-uraciluria 3786 Epilepsy 3784 Atrial_fibrillation Jervell_and_Lange-Nielsen_syndrome Long_QT_syndrome 3785 Epilepsy Myokymia_with_neonatal_epilepsy 9516 Charcot-Marie-Tooth_disease 4990 Microphthalmia 10516 Cutis_laxa Macular_degeneration 285362 Multiple_sulfatase_deficiency 8864 Advanced_sleep_phase_syndrome 7306 Albinism 7305 Nasu-Hakola_disease 3251 HPRT-related_gout "Lesch-Nyhan_syndrome," 1947 Craniofrontonasal_dysplasia 8869 Amish_infantile_epilepsy_syndrome 255738 Hypercholesterolemia 3207 Radioulnar_synostosis_with_amegakaryocytic_thrombocytopenia 7045 Corneal_dystrophy 1491 Cystathioninuria Homocysteine_plasma_level 1493 Graves_disease Hypothyroidism 5465 Hyperapobetalipoproteinemia 7040 Camurati-Engelmann_disease 1497 Cystinosis 1499 Colon_cancer Hepatic_adenoma Ovarian_cancer Pilomatricoma 3339 "Dyssegmental_dysplasia,_Silverman-Handmaker_type" "Schwartz-Jampel_syndrome,_type_1" 7048 Colon_cancer Esophageal_cancer Loeys-Dietz_syndrome 5265 Emphysema Hemorrhagic_diathesis 10195 Congenital_disorder_of_glycosylation 5261 Glycogenosis 1121 Choroidal_dystrophy 147409 Hypotrichosis 11136 Cystinuria 11132 Diabetes_mellitus 2989 Scurvy 3028 2-methyl-3-hydroxybutyryl-CoA_dehydrogenase_deficiency 525 Renal_tubular_acidosis 1019 Melanoma 83715 Deafness 3818 Prekallikrein_deficiency 1234 HIV 8517 Ectodermal_dysplasia Incontinentia_pigmenti 1231 HIV 6007 Rh-negative_blood_type 8048 Cardiomyopathy 4197 Myelodysplastic_syndrome 4193 Accelerated_tumor_formation 8518 Dysautonomia 8287 Azoospermia 4359 Charcot-Marie-Tooth_disease Dejerine-Sottas_disease Neuropathy Roussy-Levy_syndrome 4351 Carbohydrate-deficient_glycoprotein_syndrome 8288 Eosinophil_peroxidase_deficiency 4353 Alzheimer_disease Myeloperoxidase_deficiency 11005 Atopy Netherton_syndrome 55120 Fanconi_anemia 23064 Ataxia 435 Argininemia 6435 Pulmonary_fibrosis 8195 Bardet-Biedl_syndrome McKusick-Kaufman_syndrome 6439 Pulmonary_fibrosis 7555 Myotonic_dystrophy 50511 Azoospermia 4771 Meningioma Neurofibromatosis Schwannomatosis 4175 "Hypolactasia,_adult_type" Tall_stature 6756 "Sarcoma,_synovial" 6757 "Sarcoma,_synovial" 6755 Acromegaly 5818 Cleft_palate Ectodermal_dysplasia Zlotogora-Ogur_syndrome 6892 Bare_lymphocyte_syndrome 27130 Nephronophthisis 56652 Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions 348938 Ichthyosis 7172 6-mercaptopurine_sensitivity 4618 Becker_muscular_dystrophy Myopathy 4613 Feingold_syndrome 26191 Diabetes_mellitus Rheumatoid_arthritis Systemic_lupus_erythematosus 5925 Bladder_cancer Retinoblastoma 5921 Basal_cell_carcinoma Capillary_malformations Parkes_Weber_syndrome 51151 Ocular_albinism "Pigmentation_of_hair,_skin,_and_eyes,_variation_in" 4882 Acromesomelic_dysplasia 51156 Venous_thrombosis 493818 Moyamoya_disease 7399 Retinitis_pigmentosa Usher_syndrome 1053 Specific_granule_deficiency 7827 Nephrotic_syndrome 85476 Combined_oxidative_phosphorylation_deficiency 2538 Glycogen_storage_disease 64127 Blau_syndrome Crohn_disease Psoraisis Sarcoidosis 2710 Glycerol_kinase_deficiency 2717 Fabry_disease 9365 Coronary_artery_disease 7957 Epilepsy 7225 Glomerulosclerosis 7227 Trichorhinophalangeal_syndrome 5071 Adenocarcinoma Leprosy Parkinson_disease 5076 Optic_nerve_coloboma_with_renal_disease "Renal_hypoplasia,_isolated" 5077 Craniofacial-deafness-hand_syndrome Rhabdomyosarcoma Waardenburg_syndrome 1832 Arrhythmogenic_right_ventricular_dysplasia Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma Epidermolysis_bullosa Keratosis_palmoplantaria_striata Skin_fragility-woolly_hair_syndrome 1836 Achondrogenesis_Ib Atelosteogenesis Diastrophic_dysplasia Epiphyseal_dysplasia 146059 Anemia 1834 Deafness "Dentin_dysplasia,_type_II" "Dentinogenesis_imperfecta,_Shields_type" 3795 Fructosuria 3791 Hemangioma 3792 Blood_group 2155 Factor_x_deficiency Myocardial_infarction 4983 Mental_retardation 9563 Cortisone_reductase_deficiency 2153 Hemorrhagic_diathesis Thrombocytopenia Thrombophilia 10747 MASP2_deficiency 4988 Response_to_morphine-6-glucuronide 2158 Hemophilia Warfarin_resistance/sensitivity 2159 Factor_x_deficiency 80025 HARP_syndrome Neurodegeneration 6247 Retinoschisis 1690 Deafness Meniere_disease 54209 Nasu-Hakola_disease 84634 Hypogonadotropic_hypogonadism 1956 Adenocarcinoma Nonsmall_cell_lung_cancer 1959 Charcot-Marie-Tooth_disease Dejerine-Sottas_disease Neuropathy 8878 Paget_disease 3240 Anhaptoglobinemia Hypohaptoglobinemia 203859 Gnthodiaphyseal_dysplasia 825 Muscular_dystrophy 79784 Deafness 7030 Renal_cell_carcinoma 1482 Atrial_fibrillation Atrioventricular_block Tetralogy_of_Fallot 5498 Porphyria 7036 Hemochromatosis 54332 Charcot-Marie-Tooth_disease 796 Osteoporosis 5251 Hypophosphatemia 5256 Glycogenosis 9381 Deafness 5255 Muscle_hypertrophy 1718 Desmosterolosis 6310 Spinocereballar_ataxia 226 Aldolase_A_deficiency 6311 Spinocereballar_ataxia 1130 Chediak-Higashi_syndrome 1137 Epilepsy Nicotine_addiction 1134 Myasthenic_syndrome 79751 Epilepsy 7148 Ehlers-Danlos_syndrome 161497 Deafness 7140 Arthrogryposis 29929 Congenital_disorder_of_glycosylation 1001 Hypotrichosis 8050 Lacticacidemia_due_to_PDX1_deficiency 627 Central_hypoventilation_syndrome Memory_impairment Obsessive-compulsive_disorder 8504 Zellweger_syndrome 79577 Hyperparathyroidism Parathyroid_adenoma 8291 Miyoshi_myopathy Muscular_dystrophy Myopathy 6535 Mental_retardation "Creatine_deficiency_syndrome,_X-linked" 6532 Anxiety-related_personality_traits Obsessive-compulsive_disorder 6530 Orthostatic_intolerance 5664 Alzheimer_disease 7498 "Xanthinuria,_type_I" 7499 Blood_group 7490 Denys-Drash_syndrome Frasier_syndrome Mesangial_sclerosis WAGR_syndrome Wilms_tumor 7494 Bipolar_disorder 5950 "Retinol_binding_protein,_deficiency_of" 2 Alzheimer_disease 375611 Deafness 3872 Pachyonychia_congenita Steatocystoma_multiplex 3875 Cirrhosis 23230 Choreoacanthocytosis 6403 Atopy 12 Alpha-1-antichymotrypsin_deficiency "Cerebrovascular_disease,_occlusive" 15 Delayed_sleep_phase_syndrome 19 Cerebral_amyloid_angiopathy Coronary_artery_disease HDL_cholesterol_level_QTL Tangier_disease 27032 Hailey-Hailey_disease 27031 Nephronophthisis 27030 Colon_cancer 3908 Muscular_dystrophy 3909 Epidermolysis_bullosa Laryngoonychocutaneous_syndrome 4760 Diabetes_mellitus 4763 Leukemia Neurofibromatosis Neurofibromatosis-Noonan_syndrome Neurofibromatosis Watson_syndrome 4166 Macular_dystrophy 4163 Colon_cancer 4160 Obesity 64805 Platelet_defect/deficiency 1471 Cerebral_amyloid_angiopathy 51324 Mast_syndrome 9950 Thyroid_carcinoma 5805 Phenylketonuria 203 Hemolytic_anemia 208 Diabetes_mellitus 80704 Basal_ganglia_disease 166785 Methylmalonic_aciduria 2235 Protoporphyria 56262 Agammaglobulinemia 3575 Severe_combined_immunodeficiency 5932 Pancreatic_cancer 353 Urolithiasise 2184 Tyrosinemia 3659 Gastric_cancer Macrocytic_anemia Myelodysplastic_syndrome Myelogenous_leukemia Nonsmall_cell_lung_cancer 4607 Cardiomyopathy 3655 Epidermolysis_bullosa 2099 Estrogen_resistance HDL_cholesterol_level_QTL Migraine 3651 Diabetes_mellitus MODY Pancreatic_agenesis 2525 Blood_group 2524 Bombay_phenotype "Norwalk_virus_infection,_resistance_to" 224 Sjogren-Larsson_syndrome 2523 Bombay_phenotype 80144 Fraser_syndrome 2528 Fucosyltransferase-6_deficiency 26276 ARC_syndrome 114548 CINCA_syndrome Cold-induced_autoinflammatory_syndrome Muckle-Wells_syndrome 26278 Spastic_ataxia/paraplegia 387281 Thalassemias 5063 Mental_retardation 2705 Charcot-Marie-Tooth_disease 9370 Adiponectin_deficiency 2707 Deafness Erythrokeratoderma 2706 Bart-Pumphrey_syndrome Deafness Hystrix-like_ichthyosis_with_deafness Keratitis-ichthyosis-deafness_syndrome "Keratoderma,_palmoplantar,_with_deafness" Vohwinkel_syndrome 2700 Cataract 2703 Cataract 10682 Chondrodysplasia_punctata 10683 Spondylocostal_dysostosis 10686 Hypomagnesemia 79977 Deafness 1828 Keratosis_palmoplantaria_striata 1822 Dentatorubro-pallidoluysian_atrophy 2147 Dysprothrombinemia Hyperprothrombinemia Hypoprothrombinemia 4978 "Epithelial_ovarian_cancer,_somatic" 4976 Glaucoma Optic_atrophy 53947 Blood_group 925 "CD8_deficiency,_familial" 4973 Myocardial_infarction 5395 Colon_cancer Neuroectodermal_tumors Turcot_syndrome 3273 Thrombophilia 7369 Hyperuricemic_nephropathy Medullary_cystic_kidney_disease 3476 "Corpus_callosum,_agenesis_of,_with_mental_retardation,_ocular_coloboma_and_micrognathia" 3479 Growth_retardation 491 Deafness 128178 Ectodermal_dysplasia 54658 Crigler-Najjar_syndrome Gilbert_syndrome Hyperbilirubinemia 157680 Cohen_syndrome 7021 Char_syndrome 3315 Charcot-Marie-Tooth_disease Neuropathy 785 Ataxia Epilepsy 1728 Benzene_toxicity Leukemia 1729 Deafness 5245 Breast_cancer 1727 Methemoglobinemia 788 Carnitine-acylcarnitine_translocase_deficiency 5243 Colchicine_resistance 6476 Sucrose_intolerance 3000 Cone_dystrophy Leber_congenital_amaurosis 154 Asthma "Beta-2-adrenoreceptor_agonist,_reduced_response_to" Obesity 8493 Breast_cancer 1588 Aromatase_deficiency Virilization 1589 "Adrenal_hyperplasia,_congenital" Hyperandrogenism 7157 Breast_cancer Colon_cancer Hepatic_adenoma Histiocytoma Li-Fraumeni_syndrome Nasopharyngeal_carcinoma Osteosarcoma Pancreatic_cancer Thyroid_carcinoma Adrenal_cortical_carcinoma Multiple_malignancy_syndrome 1583 Lipoid_adrenal_hyperplasia 1586 "17,20-lyase_deficiency" 405 Leukemia 1584 "Adrenal_hyperplasia,_congenital" Aldosteronism 7150 DNA_topoisomerase 161582 Dyslexia 1644 Aromatic_L-amino_acid_decarboxylase_deficiency 6521 Blood_group Elliptocytosis Hemolytic_anemia Spherocytosis Renal_tubular_acidosis 6523 Glucose/galactose_malabsorption 7486 Werner_syndrome 6524 Renal_glucosuria 6528 Hypothyroidism 5651 Enterokinase_deficiency 8660 Diabetes_mellitus 1103 Myasthenic_syndrome 5244 Cholelithiasis Cholestasis 3868 Pachyonychia_congenita Palmoplantar_keratoderma 4089 Juvenile_polyposis/hereditary_hemorrhagic_telangiectasia_syndrome Pancreatic_cancer Polyposis 3861 Epidermolysis_bullosa 3860 White_sponge_nevus 91949 Congenital_disorder_of_glycosylation 11322 Epidermodysplasia_verruciformis 26511 Leukemia 5728 Bannayan-Riley-Ruvalcaba_syndrome Cowden_disease Endometrial_carcinoma Lhermitte-Duclos_syndrome Meningioma Oligodendroglioma Prostate_cancer Thyroid_carcinoma VATER_association_with_hydrocephalus 5729 Asthma 5723 Phosphoserine_phosphatase_deficiency 5726 Phenylthiocarbamide_tasting 5727 Basal_cell_carcinoma Holoprosencephaly Basal_cell_nevus_syndrome 50846 Gonadal_dysgenesis 1893 Lipoid_proteinosis 3914 Epidermolysis_bullosa 3913 Microcoria-congenital_nephrosis_syndrome 55212 Bardet-Biedl_syndrome 3918 Epidermolysis_bullosa 326625 Methylmalonic_aciduria 257054 D-2-hydroxyglutaric_aciduria 8312 Hepatic_adenoma 8313 Colon_cancer Oligodontia-colorectal_cancer_syndrome 4795 Rheumatoid_arthritis 261734 Nephronophthisis Senior-Loken_syndrome 4792 Ectodermal_dysplasia 5836 Glycogen_storage_disease 5837 McArdle_disease 8086 Achalasia-addisonianism-alacrimia_syndrome 5832 Hyperammonemia 4157 "Analgesia_from_kappa-opioid_receptor_agonist,_female-specific" Ocular_albinism Red_hair/fair_skin UV-induced_skin_damage 5830 Adrenoleukodystrophy Zellweger_syndrome 4158 Glucocorticoid_deficiency 4159 Obesity 55670 Adrenoleukodystrophy Refsum_disease Zellweger_syndrome 9927 Charcot-Marie-Tooth_disease 217 Alcohol_intolerance 215 Adrenoleukodystrophy Adrenomyeloneuropathy 212 Anemia 213 Analbuminemia Dysalbuminemic_hyperthyroxinemia 210 Lead_poisoning Porphyria 6649 "Superoxide_dismutase,_elevated_extracellular" 6647 Amyotrophic_lateral_sclerosis 7809 Bartter_syndrome 3480 Intrauterine_and_postnatal_growth_retardation 3483 "Acid-labile_subunit,_deficiency_of" 3482 Hepatic_adenoma 3643 Diabetes_mellitus Leprechaunism Rabson-Mendenhall_syndrome 3640 Cryptorchidism 6399 Spondyloepiphyseal_dysplasia 2554 Epilepsy 2555 Alcoholism 6392 "Carcinoid_tumors,_intestinal" Merkel_cell_carcinoma Paragangliomas Pheochromocytoma 6390 Paragangliomas Pheochromocytoma 6391 Paragangliomas 2395 Friedreich_ataxia 2778 Acromegaly McCune-Albright_syndrome Osseous_heteroplasia Pituitary_ACTH-secreting_adenoma Pseudohypoparathyroidism Somatotrophinoma 10320 Leukemia 4893 Colon_cancer 5019 Ketoacidosis 4891 Anemia 9499 Muscular_dystrophy Myotilinopathy 9496 Small_patella_syndrome 6262 Arrhythmogenic_right_ventricular_dysplasia Ventricular_tachycardia 6261 Malignant_hyperthermia_susceptibility Central_core_disease 2176 Fanconi_anemia 2177 Fanconi_anemia 2175 Fanconi_anemia 915 Severe_combined_immunodeficiency 162417 N-acetylglutamate_synthase_deficiency 917 Immunodeficiency 916 Immunodeficiency 84295 Borjeson-Forssman-Lehmann_syndrome 3265 Bladder_cancer Costello_syndrome Thyroid_carcinoma 5122 Obesity 847 Acatalasemia 846 Hyperparathyroidism Hypocalcemia Hypocalciuric_hypercalcemia 845 Ventricular_tachycardia 378884 Epilepsy 841 Autoimmune_disease Hepatic_adenoma 3460 Mycobacterial_infection 7372 Oroticaciduria 8893 Leukoencephalopathy_with_vanishing_white_matter Ovarioleukodystrophy 8892 Leukoencephalopathy_with_vanishing_white_matter Ovarioleukodystrophy 8891 Leukoencephalopathy_with_vanishing_white_matter 7374 Immunodeficiency 241 Myocardial_infarction Stroke 54829 Osteoarthritis 7153 DNA_topoisomerase 7018 Atransferrinemia Iron_overload/deficiency 1585 Aldosterone_to_renin_ratio_raised Hypoaldosteronism Low_renin_hypertension 7012 Aplastic_anemia Dyskeratosis 7010 Venous_thrombosis 5230 Hemolytic_anemia Myoglobinuria/hemolysis_due_to_PGK_deficiency 1730 Premature_ovarian_failure 1736 Dyskeratosis Hoyeraal-Hreidarsson_syndrome 732 Complementary_component_deficiency 84343 Hermansky-Pudlak_syndrome 375298 Retinitis_pigmentosa 79083 Griscelli_syndrome 79087 Congenital_disorder_of_glycosylation 6886 Leukemia 6887 Leukemia 3073 GM-gangliosidosis Hex_A_pseudodeficiency Tay-Sachs_disease 3074 "Sandhoff_disease,_infantile,_juvenile,_and_adult_forms" Spinal_muscular_atrophy 3075 Factor_x_deficiency Hemolytic-uremic_syndrome Macular_degeneration Nephropathy-hypertension 1593 Cerebrotendinous_xanthomatosis 3077 Hemochromatosis Porphyria 2956 Cancer_susceptibility Colon_cancer Endometrial_carcinoma Ovarian_cancer 6888 Transaldolase_deficiency 5345 Plasmin_inhibitor_deficiency 7168 Cardiomyopathy 7169 Arthrogryposis Nemaline_myopathy 5340 "Conjunctivitis,_ligneous" Plasminogen_deficiency 1029 Li_Fraumeni_syndrome Melanoma Orolaryngeal_cancer Pancreatic_cancer 7167 Hemolytic_anemia 605 "B-cell_non-Hodgkin_lymphoma,_high-grade" 606 Lymphoma 4361 Ataxia-telangiectasia 1201 Ceroid-lipofuscinosis 1200 Ceroid-lipofuscinosis 1203 Ceroid-lipofuscinosis 5649 Lissencephaly 59344 Ichthyosiform_erythroderma 6041 Prostate_cancer 5644 Pancreatitis 30813 Corneal_dystrophy "Craniofacial_anomalies,_empty_sella_turcica,_corneal_endothelial_changes,_and_abnormal_retinal_and_auditory_bipolar_cells" Keratoconus 3106 Abacavir_hypersensitivity Ankylosing_spoldylitis "Stevens-Johnson_syndrome,_carbamazepine-induced" 8671 Renal_tubular_acidosis 1118 Chitotriosidase_deficiency 23746 Cone_dystrophy Leber_congenital_amaurosis Retinitis_pigmentosa 50945 Cleft_palate 50943 Diabetes_mellitus "Immunodysregulation,_polyendocrinopathy,_and_enteropathy,_X-linked" 8419 Cataract 463 Prostate_cancer 118429 Fibromatosisl "Hyalinosis,_infantile_systemic" 487 Brody_myopathy 486 Hypomagnesemia 11315 Parkinson_disease 26503 Salla_disease Sialidosis 6468 Split-hand/foot_malformation 6469 "Coloboma,_ocular" Holoprosencephaly Solitary_median_maxillary_central_incisor 25836 Cornelia_de_Lange_syndrome 3920 Glycogen_storage_disease 2304 Bamforth-Lazarus_syndrome 23365 Leukemia 5825 Zellweger_syndrome 4148 Epiphyseal_dysplasia Osteoarthritis Spondyloepiphyseal_dysplasia 8091 Lipoma Salivary_adenoma Uterine_leiomyoma 5828 Refsum_disease Zellweger_syndrome 4143 Hypermethioninemia "Methionine_adenosyltransferase_deficiency,_autosomal_recessive" 3856 Cirrhosis 3857 Epidermolytic_hyperkeratosis 3854 Pachyonychia_congenita 3852 Epidermolysis_bullosa 3853 Pachyonychia_congenita 3850 Meesmann_corneal_dystrophy 3851 White_sponge_nevus 3858 Epidermolytic_hyperkeratosis Ichthyosis "Nevus,_epidermal,_epidermolytic_hyperkeratotic_type" 3859 Meesmann_corneal_dystrophy 6094 Retinitis_pigmentosa 6658 Infundibular_hypoplasia_and_hypopituitarism Mental_retardation 6657 Anophthalmia 3990 Hepatic_lipase_deficiency 6654 Fibromatosisl 259236 Deafness 55997 Double-outlet_right_ventricle Heterotaxy "Transposition_of_great_arteries,_dextro-looped" 10804 Deafness Ectodermal_dysplasia 56244 Sarcoidosis 5910 Lymphoma 56246 Glucocorticoid_deficiency 6910 Holt-Oram_syndrome 3664 Orofacial_cleft Popliteal_pterygium_syndrome van_der_Woude_syndrome 120227 Rickets 140803 Hypomagnesemia 191 Hypermethioninemia 190 "Adrenal_hyperplasia,_congenital" Dosage-sensitive_sex_reversal 6387 AIDS 3679 Myopathy 60506 Night_blindness 6389 Leigh_syndrome Mitochondrial_complex_deficiency 3674 Glanzmann_thrombasthenia 2542 Glycogen_storage_disease 117156 Asthma 2548 Glycogen_storage_disease 57591 "Megakaryoblastic_leukemia,_acute" 799 Osteoporosis 5002 Breast_cancer Lung_cancer Rhabdomyosarcoma 64421 Omenn_syndrome Severe_combined_immunodeficiency 9150 Congenital_cataracts 3586 Graft-versus-host_disease HIV Rheumatoid_arthritis 5009 Ornithine_transcarbamylase_deficiency 2760 GM-gangliosidosis 6324 Generalized_epilepsy 9289 Polymicrogyria 4952 Dent_disease Lowe_syndrome 4953 Colon_cancer 2166 Drug_addiction 2161 Factor_x_deficiency 2160 Factor_x_deficiency 4625 Cardiomyopathy Myopathy Central_core_disease 2617 Charcot-Marie-Tooth_disease Spinal_muscular_atrophy 122042 Cryptorchidism 4627 Deafness Epstein_syndrome Fechtner_syndrome May-Hegglin_anomaly Sebastian_syndrome 64221 Gaze_palsy 7345 Parkinson_disease 3299 Cataract 1908 Central_hypoventilation_syndrome Hirschsprung_disease Shah-Waardenburg_syndrome 1909 Migraine 3295 D-bifunctional_protein_deficiency 3257 Hermansky-Pudlak_syndrome 3290 Cortisone_reductase_deficiency 3291 "Apparent_mineralocorticoid_excess,_hypertension_due_to" Hypertension 10020 Inclusion_body_myopathy Nonaka_myopathy Sialuria 3293 "Pseudohermaphroditism,_male" 3458 AIDS Aplastic_anemia Tuberculosis Tuberous_sclerosis 22976 Alzheimer_disease 859 Cardiomyopathy Creatine_phosphokinase Muscular_dystrophy Myopathy Rippling_muscle_disease 57379 Immunodeficiency 84572 Mucolipidosis 10243 Molybdenum_cofactor_deficiency 7007 Deafness 5224 Myopathy 148738 Hemochromatosis 157570 Roberts_syndrome 29881 "Ezetimibe,_nonresponse_to" 132884 Ellis-van_Creveld_syndrome 6891 Bare_lymphocyte_syndrome Wegener_granulomatosis 3060 Narcolepsy 7170 Nemaline_myopathy 7173 Goiter Hyperthyroidism Thyroid_hormone_resistance Total_iodide_organification_defect 3064 Huntington_disease 6899 Conotruncal_anomaly_face_syndrome DiGeorge_syndrome Velocardiofacial_syndrome 6898 Tyrosinemia 1050 Leukemia 5354 Pelizaeus-Merzbacher_disease Spastic_ataxia/paraplegia 5352 Bruck_syndrome 5351 Ehlers-Danlos_syndrome Nevo_syndrome 5350 Cardiomyopathy 83990 Breast_cancer Fanconi_anemia 1278 Ehlers-Danlos_syndrome Marfan_syndrome Osteogenesis_imperfecta Osteoporosis 4312 "COPD,_rate_of_decline_of_lung_function_in" 4313 Osteolysis 4314 Coronary_artery_disease 613 Leukemia 611 Colorblindness 617 GRACILE_syndrome Leigh_syndrome Mitochondrial_complex_deficiency 1277 Caffey_disease Dissection_of_cervical_arteries Ehlers-Danlos_syndrome Osteogenesis_imperfecta Osteoporosis 6557 Bartter_syndrome 8242 Mental_retardation 8792 Osteolysis Paget_disease 8795 Squamous_cell_carcinoma 3119 Creutzfeldt-Jakob_disease 7044 Left-right_axis_malformations 3115 "Beryllium_disease,_chronic" 3110 Currarino_syndrome 7046 Loeys-Dietz_syndrome 1476 Epilepsy 8647 Cholestasis 8643 Basal_cell_carcinoma Medulloblastoma 1300 Metaphyseal_chondrodysplasia Spondylometaphyseal_dysplasia 1301 Marshall_syndrome Stickler_syndrome 1302 Deafness OSMED_syndrome Stickler_syndrome Weissenbacher-Zweymuller_syndrome 23209 Megalencephalic_leukoencephalopathy_with_subcortical_cysts 1308 Epidermolysis_bullosa 5740 Hypertension 5741 Hypoparathyroidism 23592 Buschke-Ollendorff_syndrome Melorheostosis_with_osteopoikilosis Osteopoikilosis 5745 Enchondromatosis Metaphyseal_chondrodysplasia 5468 Diabetes_mellitus Glioblastoma Insulin_resistance Lipodystrophy Obesity 4221 "Angiofibroma,_sporadic" Hyperparathyroidism Lipoma Multiple_endocrine_neoplasia Parathyroid_adenoma "Prolactinoma,_hyperparathyroidism,_carcinoid_syndrome" Adrenal_adenoma Carcinoid_tumor_of_lung 3596 Allergic_rhinitis Asthma 24 Cone_dystrophy Fundus_albipunctatus Retinitis_pigmentosa Stargardt_disease Macular_dystrophy 25 Leukemia 9839 Mowat-Wilson_syndrome 5582 Spinocereballar_ataxia 21 Surfactant_deficiency 22 Anemia 6473 Langer_mesomelic_dysplasia Leri-Weill_dyschondrosteosis Short_stature 2593 GAMT_deficiency 28 Blood_group 7592 Mental_retardation 5589 Polycystic_liver_disease 23111 Troyer_syndrome 7750 Stem-cell_leukemia/lymphoma_syndrome 3939 Exertional_myoglobinuria_due_to_deficiency_of_LDH-A 3938 "Hypolactasia,_adult_type" 3931 Fish-eye_disease Norum_disease 3930 Greenberg_dysplasia Pelger-Huet_anomaly 5264 Refsum_disease 51684 Medulloblastoma 6716 Pseudovaginal_perineoscrotal_hypospadias 6714 Colon_cancer 6710 Anemia Elliptocytosis Spherocytosis 23373 Mucoepidermoid_salivary_gland_carcinoma 7473 "Tetra-amelia,_autosomal_recessive" 4137 Dementia Pallidopontonigral_degeneration Supranuclear_palsy Tauopathy_and_respiratory_failure 3845 Bladder_cancer Breast_cancer Leukemia Lung_cancer Pancreatic_cancer Stomach_cancer 65018 Parkinson_disease 3849 Ichthyosis 3848 Cyclic_ichthyosis_with_epidermolytic_hyperkeratosis Epidermolytic_hyperkeratosis Ichthyosis Keratosis_palmoplantaria_striata "Unna-Thost_disease,_nonepidermolytic" 4041 Bone_mineral_density_variability Exudative_vitreoretinopathy "Hyperostosis,_endosteal" Osteopetrosis Osteoporosis Osteoporosis-pseudoglioma_syndrome van_Buchem_disease 6662 Acampomelic_campolelic_dysplasia Campomelic_dysplasia 6663 PCWH Waardenburg-Shah_syndrome Yemenite_deaf-blind_hypopigmentation_syndrome 4049 Myocardial_infarction 5961 "Butterfly_dystrophy,_retinal" "Foveomacular_dystrophy,_adult-onset,_with_choroidal_neovascularization" Retinitis_pigmentosa Macular_dystrophy 120329 Sepsis 2289 Major_depressive_disorder 3667 Diabetes_mellitus 3662 Multiple_myeloma 4548 Down_syndrome "Methylcobalamin_deficiency,_cblG_type" Spina_bifida 64699 Deafness 4547 Abetalipoproteinemia 4534 Myotubular_myopathy 57214 Deafness 26227 Phosphoglycerate_dehydrogenase_deficiency 3593 Asthma 64342 "Tremor,_familial_essential" 2591 "Calcinosis,_tumoral" 2592 Galactosemia 3594 Mycobacterial_infection 9129 Retinitis_pigmentosa 593 Maple_syrup_urine_disease 4437 Endometrial_carcinoma 4436 Cafe-au-lait_spots Colon_cancer Glioblastoma Lymphoma Lynch_cancer_family_syndrome_II Muir-Torre_syndrome Neurofibromatosis Ovarian_cancer 7915 Succinic_semialdehyde_dehydrogenase_deficiency 977 Nephropathy 4942 "Gyrate_atrophy_of_choroid_and_retina_with_ornithinemia,_B6_responsive_or_unresponsive" 79944 L-2-hydroxyglutaric_aciduria 596 Leukemia 4948 Albinism 182 Alagille_syndrome Deafness Tetralogy_of_Fallot 183 Hypertension Preeclampsia Renal_tubular_dysgenesis 181 "Leanness,_inherited" Obesity 186 Mental_retardation 185 Hypertension Renal_tubular_dysgenesis 2110 Glutaricaciduria 189 Hyperoxaluria 2623 Dyserythropoietic_anemia Leukemia Macrothrombocytopenia 2626 Atrial_fibrillation 4153 Meningococcal_disease "Chronic_infections,_due_to_opsonin_defect" 2628 AGAT_deficiency 2629 Gaucher_disease 7351 Obesity 7350 Obesity 5108 Thyroid_carcinoma 51251 Anemia 7356 Asthma 1910 ABCD_syndrome Hirschsprung_disease Waardenburg-Shah_syndrome 3284 "3-beta-hydroxysteroid_dehydrogenase,_type_II,_deficiency" 9231 Crohn_disease 54806 Joubert_syndrome 6049 Esophageal_cancer 861 Leukemia Platelet_defect/deficiency Rheumatoid_arthritis 860 Cleidocranial_dysplasia "Dental_anomalies,_isolated" 54808 Dyggve-Melchior-Clausen_disease Smith-McCort_dysplasia 2027 Enolase_deficiency 2022 Hereditary_hemorrhagic_telangiectasia 11254 Obesity 146183 Deafness 889 Cavernous_malformations_of_CNS_and_retina Hyperkeratotic_cutaneous_capillary-venous_malformations_associated_with_cerebral_capillary_malformations Cerebral_cavernous_malformations 5213 Glycogen_storage_disease 9051 "Pyogenic_sterile_arthritis,_pyoderma_gangrenosum,_and_acne" 9056 Lysinuric_protein_intolerance 2625 Hypoparathyroidism 55775 Spinocereballar_ataxia 22891 Nephrolithiasis 8929 Central_hypoventilation_syndrome Hirschsprung_disease Neuroblastoma 775 Timothy_syndrome 773 Cerebellar_ataxia Episodic_ataxia "Hemiplegic_migraine,_familial" Spinocereballar_ataxia 7503 "X-inactivation,_familial_skewed" 779 Hypokalemic_periodic_paralysis Malignant_hyperthermia_susceptibility Thyrotoxic_periodic_paralysis 778 Night_blindness 7100 Legionaire_disease 2978 Cone_dystrophy 71 Deafness 70 Cardiomyopathy 3053 Thrombophilia 57817 Hemochromatosis 1041 Hypotrichosis 219736 Preeclampsia 79158 Mucolipidosis 359 Diabetes_insipidus 1687 Deafness 4306 Hypertension Pseudohypoaldosteronism 669 Hemolytic_anemia 668 "Blepharophimosis,_epicanthus_inversus,_and_ptosis" Premature_ovarian_failure 1261 Achromatopsia 8787 Bradyopsia 30835 "Dengue_fever,_protection_against" 3123 Sarcoidosis 8659 Hyperprolinemia 8431 Obesity 1316 Gastric_cancer Prostate_cancer 1312 Schizophrenia 1311 Epiphyseal_dysplasia Pseudoachondroplasia 8438 Breast_cancer Colon_cancer Lymphoma 5096 Propionicacidemia 6915 Bleeding_disorder 6444 Cardiomyopathy Muscular_dystrophy 6445 Muscular_dystrophy 9821 Breast_cancer 9820 3-M_syndrome 6440 "Pneumonitis,_desquamative_interstitial" Pulmonary_fibrosis Surfactant_deficiency 4233 Hepatic_adenoma Renal_cell_carcinoma 6448 Sanfilippo_syndrome 23562 Deafness 89781 Hermansky-Pudlak_syndrome 25814 Spinocereballar_ataxia 50814 CHILD_syndrome 3949 Hypercholesterolemia 865 Myelogenous_leukemia 3945 Lactate_dehydrogenase-B_deficiency 6708 Elliptocytosis Pyropoikilocytosis Spherocytosis 23305 Myelodysplastic_syndrome Myelogenous_leukemia 8322 Exudative_vitreoretinopathy 4128 Brunner_syndrome 4126 Mannosidosis 4125 Mannosidosis 7436 "Cerebellar_hypoplasia,_VLDLR-associated" 7439 "Maculopathy,_bull's-eye" Vitelliform_macular_dystrophy Macular_dystrophy 23414 Tetralogy_of_Fallot 23417 Malonyl-CoA_decarboxylase_deficiency 81693 Megaloblastic_anemia 23418 Leber_congenital_amaurosis Pigmented_paravenous_chorioretinal_atrophy Retinitis_pigmentosa 51185 Mental_retardation 4059 Blood_group 5979 Central_hypoventilation_syndrome "Colonic_aganglionosis,_total,_with_small_bowel_involvement" Hirschsprung_disease Multiple_endocrine_neoplasia Medullary_thyroid_carcinoma 5972 Hyperproreninemia Renal_tubular_dysgenesis 51741 Esophageal_cancer 3614 Retinitis_pigmentosa 60528 Prostate_cancer 2296 Anterior_segment_anomalies_and_cataract Axenfeld_anomaly Iridogoniodysgenesis Iris_hypoplasia_and_glaucoma Rieger_syndrome 25788 Colon_cancer Lymphoma 2562 Insomnia 90411 Factor_x_deficiency 2566 Epilepsy Myoclonic_epilepsy 10913 Ectodermal_dysplasia 9132 Deafness 7292 Myocardial_infarction 2584 Galactokinase_deficiency 2582 Galactose_epimerase_deficiency 2581 Krabbe_disease 7299 Albinism Waardenburg_syndrome 5023 Bleeding_disorder 5027 Leukemia 2588 Mucopolysaccharidosis 1861 Dystonia 3728 Naxos_disease 4687 Chronic_granulomatous_disease 966 CD59_deficiency 53904 Deafness 4683 Leukemia Nijmegen_breakage_syndrome 6299 Townes-Brocks_syndrome 4938 Viral_infection 6295 Oguchi_disease 4688 Chronic_granulomatous_disease 145873 Spondylocostal_dysostosis 2109 Glutaricaciduria 2108 Glutaricaciduria 85358 Chromosome_22q13.3_deletion_syndrome 26121 Retinitis_pigmentosa 80270 Cholestasis 23569 Rheumatoid_arthritis 2639 Glutaricaciduria 2638 Graves_disease 10002 Enhanced_S-cone_syndrome Retinitis_pigmentosa 37 VLCAD_deficiency 10008 Hypokalemic_periodic_paralysis 2632 Glycogen_storage_disease 1717 Smith-Lemli-Opitz_syndrome 9227 Retinal_cone_dsytrophy 64240 Sitosterolemia 387082 Diabetes_mellitus 875 Homocystinuria Thrombophilia 22954 Muscular_dystrophy 2741 Hyperekplexia Startle_disease 3481 Intrauterine_and_postnatal_growth_retardation 2035 Elliptocytosis 4591 Mulibrey_nanism 2033 Colon_cancer Rubenstein-Taybi_syndrome 4594 Methylmalonic_aciduria 2746 Hyperinsulinism-hyperammonemia_syndrome 4598 Hyper-IgD_syndrome Mevalonicaciduria 4842 "Pyloric_stenosis,_infantile_hypertrophic" 4843 Malaria 57697 Fanconi_anemia 10269 Mandibuloacral_dysplasia_with_type_B_lipodystrophy "Restrictive_dermopathy,_lethal" 5205 Cholestasis 10461 Retinitis_pigmentosa 5199 Properdin_deficiency 1618 Spermatogenic_failure 3543 Agammaglobulinemia 3549 Acrocapitofemoral_dysplasia Brachydactyly 5195 Zellweger_syndrome 8910 Dystonia 8915 Colon_cancer Germ_cell_tumor Lymphoma Mesothelioma Sezary_syndrome 54904 Leukemia 1789 Immunodeficiency-centromeric_instability-facial_anomalies_syndrome 1967 Leukoencephalopathy_with_vanishing_white_matter 762 Retinitis_pigmentosa 760 Renal_tubular_acidosis 1785 Charcot-Marie-Tooth_disease 3048 HPFH 3040 Erythrocytosis Heinz_body_anemia Hemoglobin_H_disease Hypochromic_microcytic_anemia Thalassemias 3043 Erythremias Heinz_body_anemia HPFH Methemoglobinemia Sickle_cell_anemia Thalassemias 10083 Deafness Usher_syndrome 3045 Thalassemias 3047 HPFH 79147 Muscular_dystrophy 5378 Colon_cancer 1075 Haim-Munk_syndrome Papillon-Lefevre_syndrome Periodontitis 5371 Leukemia 5373 Carbohydrate-deficient_glycoprotein_syndrome 1071 CETP_deficiency Hyperalphalipoproteinemia Longevity 1678 Deafness Jensen_syndrome Mohr-Tranebjaerg_syndrome 1674 Cardiomyopathy Myopathy 4338 Molybdenum_cofactor_deficiency 4337 Molybdenum_cofactor_deficiency 4330 Meningioma 673 Adenocarcinoma Colon_cancer Melanoma Nonsmall_cell_lung_cancer 1410 Cataract Myopathy 1411 Cataract 1414 Cataract 1415 Cataract 1326 Lung_cancer 2495 Iron_overload/deficiency 6906 Thyroxine-binding_globulin_deficiency 6905 Hypoparathyroidism-retardation-dysmorphism_syndrome Kenny-Caffey_syndrome-1 6452 Cherubism 8139 Giant_axonal_neuropathy 9856 Dyslexia 4200 Epilepsy 4204 Angelman_syndrome Autism Mental_retardation PPM-X_syndrome Rett_syndrome 4205 Coronary_artery_disease 1524 Rapid_progression_to_AIDS_from_HIV1_infection 89884 Short_stature 1528 Methemoglobinemia 1258 Retinitis_pigmentosa 1259 Retinitis_pigmentosa 3953 Obesity 3952 Obesity 3957 Myocardial_infarction 11216 Longevity 7102 Mental_retardation 51422 Cardiomyopathy Wolff-Parkinson-White_syndrome 149998 Hypertriglyceridemia 7422 Diabetes_mellitus 7421 Rickets 7428 "Hemangioblastoma,_cerebellar" Pheochromocytoma Polycythemia Renal_cell_carcinoma von_Hippel-Lindau_syndrome 2779 Night_blindness 6606 Spinal_muscular_atrophy 6608 Basal_cell_carcinoma 6609 Niemann-Pick_disease 8292 Endplate_acetylcholinesterase_deficiency 4068 Lymphoma 4069 Amyloidosis 51738 Obesity 5781 Leopard_syndrome Leukemia Noonan_syndrome 5782 Colon_cancer 2771 Pituitary_ACTH-secreting_adenoma Ventricular_tachycardia 51733 Beta-ureidopropionase_deficiency 5788 Severe_combined_immunodeficiency Multiple_sclerosis 25794 Retinitis_pigmentosa 7067 Pituitary_ACTH-secreting_adenoma 471 AICA-ribosiduria_due_to_ATIC_deficiency 7287 Retinitis_pigmentosa 9459 Mental_retardation 6736 Gonadal_dysgenesis 9451 Wolcott-Rallison_syndrome 121278 Unipolar_depression 3736 Episodic_ataxia 1896 Ectodermal_dysplasia 1890 Myoneurogastrointestinal_encephalomyopathy_syndrome 3730 Kallmann_syndrome 959 Immunodeficiency 958 Immunodeficiency 4693 Coats_disease Exudative_vitreoretinopathy Norrie_disease 4920 Brachydactyly "Robinow_syndrome,_autosomal_recessive" 2132 Exostoses 4926 Leukemia 2130 Chondrosarcoma Ewing_sarcoma 2131 Chondrosarcoma Exostoses 4929 Parkinson_disease 2138 Anterior_segment_anomalies_and_cataract Branchiootic_syndrome 118 Hypertension 93986 Specific_language_impairment_QTL 81846 Charcot-Marie-Tooth_disease 57167 Duane_syndrome 57165 (null) 26119 Hypercholesterolemia 6023 Cartilage-hair_hypoplasia Metaphyseal_chondrodysplasia 85366 Cardiomyopathy 85365 Congenital_disorder_of_glycosylation 5160 Leigh_syndrome Pyruvate_dehydrogenase_deficiency 5162 Pyruvate_dehydrogenase_deficiency 5167 Diabetes_mellitus Obesity Ossification_of_the_posterior_longitudinal_spinal_ligaments 2642 Diabetes_mellitus 2643 Dystonia 2645 Diabetes_mellitus Hyperinsulinism MODY 9210 Ovarian_dysgenesis 9211 Epilepsy Glioblastoma 9217 Amyotrophic_lateral_sclerosis Spinal_muscular_atrophy 9215 Muscular_dystrophy 3423 Mucopolysaccharidosis 3426 Complementary_component_deficiency 3425 Mucopolysaccharidosis 6335 Erythermalgia 6337 Pseudohypoaldosteronism 2006 Cutis_laxa Supravalvar_aortic_stenosis Williams-Beuren_syndrome 6331 Brugada_syndrome Heart_block Long_QT_syndrome Sick_sinus_syndrome "Ventricular_fibrillation,_idiopathic" 4854 Cerebral_arteriopathy_with_subcortical_infarcts_and_leukoencephalopathy 6338 Liddle_syndrome Pseudohypoaldosteronism 9076 Neonatal_ichthyosis-sclerosing_cholangitis_syndrome 3557 Gastric_cancer 3553 Gastric_cancer 3559 "Interleukin-2_receptor,_alpha_chain,_deficiency_of" 10585 Muscular_dystrophy Walker-Warburg_syndrome 6309 Lathosterolosis 1798 Congenital_disorder_of_glycosylation 718 Complementary_component_deficiency 717 Complementary_component_deficiency 716 Complementary_component_deficiency 29851 ICOS_deficiency 714 Complementary_component_deficiency 713 Complementary_component_deficiency 712 Complementary_component_deficiency 710 Angioedema 7124 Asthma Dementia Malaria Migraine Sepsis 2178 Fanconi_anemia 5308 Iridogoniodysgenesis Rieger_syndrome Ring_dermoid_of_cornea 5309 Anterior_segment_anomalies_and_cataract Cataract 4329 Methylmalonate_semialdehyde_dehydrogenase_deficiency 590 "Apnea,_postanesthetic" 283120 Beckwith-Wiedemann_syndrome 595 Colon_cancer Leukemia von_Hippel-Lindau_syndrome 594 Maple_syrup_urine_disease 1080 Cystic_fibrosis Hypertrypsinemia Pancreatitis Sweat_chloride_elevation_without_CF Congenital_bilateral_absence_of_vas_deferens 6598 Rhabdoid_tumors 136647 Trichothiodystrophy 3141 Holocarboxylase_synthetase_deficiency 3145 Porphyria 201163 Birt-Hogg-Dube_syndrome Colon_cancer "Pneumothorax,_primary_spontaneous" Renal_cell_carcinoma 2820 Diabetes_mellitus 2821 Hemolytic_anemia 3386 Blood_group 3383 Malaria 1409 Cataract 1406 Cone_dystrophy Leber_congenital_amaurosis Retinitis_pigmentosa 4210 Familial_Mediterranean_fever 443 Canavan_disease 445 Citrullinemia 115761 Leukemia 5770 Insulin_resistance 23092 Leukemia 23095 Charcot-Marie-Tooth_disease 7704 Leukemia 38 Alpha-methylacetoacetic_aciduria 5578 "Pituitary_tumor,_invasive" 33 "Acyl-CoA_dehydrogenase,_deficiency_of" 5573 Adrenocortical_carcinoma Carney_complex "Myxoma,_intracardiac" Thyroid_carcinoma "Pigmented_adrenocortical_disease,_primary_isolated" 36 2-methylbutyrylglycinuria 35 "Acyl-CoA_dehydrogenase,_deficiency_of" 34 "Acyl-CoA_dehydrogenase,_deficiency_of" 641 Bloom_syndrome 1536 Chronic_granulomatous_disease 1535 Chronic_granulomatous_disease 642 Alzheimer_disease 1244 Dubin-Johnson_syndrome 3098 Hemolytic_anemia 338 Abetalipoproteinemia Hypercholesterolemia Hypobetalipoproteinemia 335 Amyloidosis Apolipoprotein_deficiency Corneal_dystrophy Hypertriglyceridemia Hypoalphalipoproteinemia 336 Apolipoprotein_deficiency Hypercholesterolemia 7415 Inclusion_body_myopathy 3892 Monilethrix 25894 Spinocereballar_ataxia 3897 CRASH_syndrome Hydrocephalus MASA_syndrome 116519 Hypertriglyceridemia 56172 Chondrocalcinosis Craniometaphyseal_dysplasia 6611 Mental_retardation 374291 Leigh_syndrome 340024 Hartnup_disorder 843 Autoimmune_disease Gastric_cancer Non-Hodgkin_lymphoma 10841 Glutamate_formiminotransferase_deficiency 10842 Hypercholesterolemia 5956 Blue-cone_monochromacy Colorblindness 5959 Fundus_albipunctatus 8898 Charcot-Marie-Tooth_disease 4070 Corneal_dystrophy 5795 Colon_cancer 3630 Hyperproinsulinemia MODY 60386 Microcephaly 8890 Leukoencephalopathy_with_vanishing_white_matter Ovarioleukodystrophy 57716 Dejerine-Sottas_disease 6103 Cone_dystrophy Macular_degeneration Retinitis_pigmentosa 6102 Retinitis_pigmentosa 6101 Hypertriglyceridemia Retinitis_pigmentosa 6100 Retinitis_pigmentosa 9445 Dementia 1889 Hirschsprung_disease Hypertension 3700 Hypercholesterolemia 50964 Sclerosteosis 3704 Inosine_triphosphatase_deficiency 2121 Ellis-van_Creveld_syndrome Weyers_acrodental_dysostosis 4668 Kanzaki_disease Schindler_disease 4669 Sanfilippo_syndrome 948 Malaria Platelet_defect/deficiency 4914 Insensitivity_to_pain Medullary_thyroid_carcinoma 4915 Obesity 6591 Waardenburg_syndrome 64087 3-Methylcrotonyl-CoA_carboxylase_deficiency 6442 Muscular_dystrophy 80781 Knobloch_syndrome 57152 Meleda_disease 6443 Muscular_dystrophy 5172 Deafness Enlarged_vestibular_aqueduct Pendred_syndrome 10060 Cardiomyopathy 2653 Glycine_encephalopathy 2652 Blue-cone_monochromacy Colorblindness 2651 Adult_i_phenotype Blood_group 2654 Leigh_syndrome Maple_syrup_urine_disease 22930 Walker-Warburg_syndrome 7389 Porphyria 22934 Ribose_5-phosphate_isomerase_deficiency 7381 Mitochondrial_complex_deficiency 4868 Nephrotic_syndrome 4869 Leukemia 6323 Epilepsy 2018 Schizencephaly 4860 "Nucleoside_phosphorylase_deficiency,_immunodeficiency_due_to" 9685 Schizophrenia 2010 Emery-Dreifuss_muscular_dystrophy 6329 "Cramps,_potassium-aggravated" Hyperkalemic_periodic_paralysis Hypokalemic_periodic_paralysis Myasthenic_syndrome Myotonia_congenita Paramyotonia_congenita 9060 "SEMD,_Pakistani_type" 10117 Amelogenesis_imperfecta "Hypoplastic_enamel_pitting,_localized" 3561 Severe_combined_immunodeficiency Combined_immunodeficiency 3566 Atopy 7251 Breast_cancer 7252 Hypothyroidism 7253 Hyperthroidism Hypothyroidism Thyroid_carcinoma 3569 Kaposi_sarcoma 7259 Sudden_infant_death_with_dysgenesis_of_the_testes_syndrome 4487 Cleft_palate Hypodontia Witkop_syndrome 4481 Prostate_cancer 10594 Retinitis_pigmentosa 80324 Mitochondrial_myopathy_and_sideroblastic_anemia 4488 Craniosynostosis Parietal_foramina 6854 Schizophrenia 6853 Epilepsy 84441 Mucoepidermoid_salivary_gland_carcinoma 2908 Cortisol_resistance 701 Colon_cancer 7139 Cardiomyopathy 7138 Nemaline_myopathy 89 Alpha-actinin-3_deficiency Elite_sprint_athletic_performance 81 Glomerulosclerosis 7134 Cardiomyopathy 7137 Cardiomyopathy 7136 Arthrogryposis 5318 Arrhythmogenic_right_ventricular_dysplasia 5313 Anemia 5311 Polycystic_kidney_disease 5310 Polycystic_kidney_disease 5317 Ectodermal_dysplasia 5314 Polycystic_kidney_disease 8805 Thyroid_carcinoma 8803 Mitochondrial_DNA_depletion_syndrome 6583 Rheumatoid_arthritis 585 Bardet-Biedl_syndrome 582 Bardet-Biedl_syndrome 583 Bardet-Biedl_syndrome 580 Breast_cancer 581 Colon_cancer T-cell_lymphoblastic_leukemia 8200 Acromesomelic_dysplasia Brachydactyly Fibular_hypoplasia_and_complex_brachydactyly "Chondrodysplasia,_Grebe_type" 3156 Statins 3155 HMG-CoA_deficiency 11081 Corneal_dystrophy 3158 HMG-CoA_deficiency 1436 Myelogenous_leukemia 114902 Retinal_cone_dsytrophy 1439 Pulmonary_fibrosis 79058 Alveolar_soft-part_sarcoma 79053 Congenital_disorder_of_glycosylation 4261 Bare_lymphocyte_syndrome Rheumatoid_arthritis Multiple_sclerosis 8074 "Calcinosis,_tumoral" Hypophosphatemic_rickets 342880 Bradyopsia 6928 Diabetes_mellitus "Glomerulocystic_kidney_disease,_hypoplastic" MODY 6927 Diabetes_mellitus Hepatic_adenoma MODY 6926 Ulnar-mammary_syndrome 5546 Renal_cell_carcinoma 657 Cowden_disease Polyposis 25861 Deafness 3081 Alkaptonuria 658 Brachydactyly 659 "Pulmonary_hypertension,_familial_primary" 8379 Lymphoma Prostate_cancer 5896 Omenn_syndrome Severe_combined_immunodeficiency 5897 Omenn_syndrome Severe_combined_immunodeficiency 11231 Polycystic_liver_disease 11234 Hermansky-Pudlak_syndrome 11235 Cerebral_cavernous_malformations 11236 Renal_cell_carcinoma 3887 Monilethrix 11200 Breast_cancer Li-Fraumeni_syndrome Osteosarcoma Prostate_cancer 7401 Usher_syndrome 26353 Neuropathy 6622 Dementia Parkinson_disease 6620 Dementia 4000 Cardiomyopathy Emery-Dreifuss_muscular_dystrophy Lipodystrophy 84930 Thrombocytopenia 323 Alzheimer_disease 3973 Hypogonadotropic_hypogonadism Leydig_cell_adenoma Micropenis "Precocious_puberty,_male" "Pseudohermaphroditism,_male" 3972 "Hypogonadism,_hypergonadotropic" 326 Autoimmune_disease 324 "Adenoma,_periampullary" Adenomas Colon_cancer "Desmoid_disease,_hereditary" Gardner_syndrome Gastric_cancer Turcot_syndrome 3978 DNA_ligase_I_deficiency 65125 Pseudohypoaldosteronism 3621 Squamous_cell_carcinoma 81794 Weill-Marchesani_syndrome 2332 Fragile_X_syndrome 2334 Mental_retardation 1594 Pseudovitamin_D_deficiency_rickets_1 201294 Hemophagocytic_lymphohistiocytosis 4719 Mitochondrial_complex_deficiency 3717 "Myelofibrosis,_idiopathic" Polycythemia Thrombocythemia 9479 Diabetes_mellitus 3712 Isovaleric_acidemia 50617 Renal_tubular_acidosis 3718 SCID 6006 Blood_group Rh-negative_blood_type 85300 Ataxia 6005 Anemia Rh-mod_syndrome 2488 "Follicle-stimulating_hormone_deficiency,_isolated" 2489 Facioscapulohumeral_muscular_dystrophy 4901 Retinal_cone_dsytrophy Retinitis_pigmentosa 2487 Osteoarthritis 4902 Hirschsprung_disease 2244 Afibrinogenemia Dysfibrinogenemia Thrombophilia 2245 Aarskog-Scott_syndrome Mental_retardation 56729 Diabetes_mellitus Hypertension 2243 Afibrinogenemia Amyloidosis Dysfibrinogenemia 387129 Asthma 2719 Simpson-Golabi-Behmel_syndrome Wilms_tumor 7391 Hyperlipidemia 7390 Porphyria 5144 Stroke 5145 Retinitis_pigmentosa 999 Breast_cancer Endometrial_carcinoma Gastric_cancer Listeria_monocytogenes Ovarian_cancer 64072 Deafness Usher_syndrome 7084 Mitochondrial_DNA_depletion_myopathy 54840 Ataxia 56922 3-Methylcrotonyl-CoA_carboxylase_deficiency 2068 Cerebrooculofacioskeletal_syndrome Trichothiodystrophy Xeroderma_pigmentosum 2798 Fertile_eunuch_syndrome Hypogonadotropic_hypogonadism 2799 Mucopolysaccharidosis 6314 Spinocereballar_ataxia 6315 Spinocereballar_ataxia 2064 Adenocarcinoma Gastric_cancer Glioblastoma Ovarian_cancer 9095 Adrenocorticotropic_hormone_deficiency 1028 Beckwith-Wiedemann_syndrome 10128 Leigh_syndrome 9657 Senior-Loken_syndrome 116085 Hypouricemia 7015 Aplastic_anemia 5091 Pyruvate_dehydrogenase_deficiency 5092 Hyperphenylalaninemia 5095 Propionicacidemia 7249 Lymphangioleiomyomatosis Tuberous_sclerosis 7248 "Focal_cortical_dysplasia,_Taylor_balloon_cell_type" Lymphangioleiomyomatosis Tuberous_sclerosis 2664 Mental_retardation 2660 Muscle_hypertrophy 2668 Central_hypoventilation_syndrome Hirschsprung_disease 6821 Sulfite_oxidase_deficiency 54714 Achromatopsia Macular_degeneration 2937 Glutathione_synthetase_deficiency Hemolytic_anemia 2934 Amyloidosis 5324 Adenomas 5320 Colon_cancer 5328 Alzheimer_disease 1837 Left_ventricular_noncompaction 338917 Microphthalmia 1646 Obesity 1641 Lissencephaly Subcortical_laminar_heterotopia 1643 Xeroderma_pigmentosum 1649 Myxoid_liposarcoma 8813 Congenital_disorder_of_glycosylation 11093 Thrombophilia 570 Hypercholanemia 79796 Congenital_disorder_of_glycosylation 3162 Heme_oxygenase-1_deficiency 1421 Cataract 1420 Cataract 1428 Deafness 6325 Seizures 7099 Endotoxin_hyporesponsiveness 730 Complementary_component_deficiency 2157 Hemophilia 735 Complementary_component_deficiency 8106 Oculopharyngeal_muscular_dystorphy 1352 Encephalopathy 79648 Microcephaly Premature_chromosome_condensation_with_microcephaly_and_mental_retardation 1356 Cerebellar_ataxia "Hemosiderosis,_systemic,_due_to_aceruloplasminemia" Hypoceruloplasminemia 1355 Cardiomyopathy Leigh_syndrome 462 Antithrombin_III_deficiency 9568 Nicotine_addiction 5551 Hemophagocytic_lymphohistiocytosis 6955 Leukemia 11146 Glomuvenous_malformations 91647 "Complex_mitochondrial_respiratory_chain,_deficiency_of" 11141 Mental_retardation 10743 Smith-Magenis_syndrome 4867 Joubert_syndrome Nephronophthisis Senior-Loken_syndrome 4864 Niemann-Pick_disease 1513 Pycnodysostosis 5880 Neutrophil_immunodeficiency_syndrome 27185 Schizophrenia 5888 Breast_cancer 6555 "Bile_acid_malabsorption,_primary" 6556 Mycobacterial_infection 123016 Bardet-Biedl_syndrome 6559 Gitelman_syndrome 170302 Infantile_spasm_syndrome Lissencephaly Mental_retardation Myoclonic_epilepsy Partington_syndrome Proud_syndrome 55605 Fibrosis 6638 Prader-Willi_syndrome 26580 Lipodystrophy Silver_spastic_paraplegia_syndrome Spinal_muscular_atrophy 4018 "LPA_deficiency,_congenital" 4010 Nail-patella_syndrome 4014 Erythrokeratoderma Vohwinkel_syndrome 7504 McLeod_syndrome 356 Systemic_lupus_erythematosus 355 Autoimmune_disease Squamous_cell_carcinoma 7507 Xeroderma_pigmentosum 3988 Cholesteryl_ester_storage_disease Wolman_disease 351 Alzheimer_disease Amyloidosis Schizophrenia 350 Apolipoprotein_deficiency 51099 Chanarin-Dorfman_syndrome 7508 Xeroderma_pigmentosum 3981 LIG4_syndrome Multiple_myeloma 3982 Cataract 358 Aquaporin-1_deficiency Blood_group 6121 Leber_congenital_amaurosis Retinitis_pigmentosa 2322 Leukemia 4703 Nemaline_myopathy 2324 Hemangioma Lymphedema 2328 Fish-odor_syndrome 9562 Thyroid_carcinoma 287 Long_QT_syndrome 286 Spherocytosis 3767 Diabetes_mellitus Persistent_hyperinsulinemic_hypoglycemia_of_infancy 60529 Parietal_foramina 265 Amelogenesis_imperfecta 269 Persistent_Mullerian_duct_syndrome 268 Persistent_Mullerian_duct_syndrome 6011 Oguchi_disease 6010 Night_blindness Retinitis_pigmentosa 6017 Bothnia_retinal_dystrophy Fundus_albipunctatus Newfoundland_rod-cone_dystrophy Retinitis_pigmentosa 4640 Deafness 2492 "Twinning,_dizygotic" Ovarian_dysgenesis Ovarian_hyperstimulation_syndrome Ovarian_sex_cord_tumors 4646 Deafness 4647 Deafness Usher_syndrome 4644 Griscelli_syndrome 1297 Epiphyseal_dysplasia 2259 Spinocereballar_ataxia 3242 Tyrosinemia 2255 Aplasia_of_lacrimal_and_salivary_glands 5159 "Myelomonocytic_leukemia,_chronic" Myeloproliferative_disorder 5158 Night_blindness Retinitis_pigmentosa 5155 Dermatofibrosarcoma_protuberans Giant-cell_fibroblastoma Meningioma 5157 Colon_cancer Hepatic_adenoma 5156 Gastrointestinal_stromal_tumor Hypereosinophilic_syndrome 57192 Mucolipidosis 57190 Muscular_dystrophy 7873 Pancreatic_cancer 7879 Charcot-Marie-Tooth_disease 2784 Hypertension 4803 Neuropathy 2780 Achromatopsia 79803 Hermansky-Pudlak_syndrome 26012 Hypogonadotropic_hypogonadism 1716 Mitochondrial_DNA_depletion_syndrome 2073 Cerebrooculofacioskeletal_syndrome Xeroderma_pigmentosum 2072 Xeroderma_pigmentosum 2071 Trichothiodystrophy Xeroderma_pigmentosum 2070 Cardiomyopathy Deafness 9469 Spondyloepiphyseal_dysplasia 6303 Keratosis_palmoplantaria_striata 2074 Cerebrooculofacioskeletal_syndrome Cockayne_syndrome De_Sanctis-Cacchione_syndrome 2200 Aortic_aneurysm Ectopia Marfan_syndrome MASS_syndrome Shprintzen-Goldberg_syndrome Weill-Marchesani_syndrome 10133 Glaucoma 3508 Spinal_muscular_atrophy 7273 Cardiomyopathy Muscular_dystrophy 7276 Amyloid_neuropathy Amyloidosis "Carpal_tunnel_syndrome,_familial" Dystransthyretinemic_hyperthyroxinemia 7274 Ataxia 5083 Hypodontia Oligodontia 3501 IgG2_deficiency 5081 Rhabdomyosarcoma 5080 "Aniridia,_type_II" Cataract "Coloboma,_ocular" Ectopia Eye_anomalies Foveal_hypoplasia Keratitis Morning_glory_disc_anomaly Peters_anomaly Optic_nerve_hypoplasia/aplasia 4968 Renal_cell_carcinoma 3507 Agammaglobulinemia 2670 Alexander_disease 2672 Neutropenia 2677 Vitamin_K-dependent_coagulation_defect 6833 Diabetes_mellitus Hypoglycemia 6834 Leigh_syndrome 488 Acrokeratosis_verruciformis Darier_disease 10557 Niemann-Pick_disease 10555 Lipodystrophy 5339 Epidermolysis_bullosa Muscular_dystrophy 10558 Neuropathy 1630 Colon_cancer 347344 Mental_retardation 1636 Alzheimer_disease Angiotensin_I-converting_enzyme Diabetes_mellitus Myocardial_infarction "SARS,_progression_of" Renal_tubular_dysgenesis 1639 Amyotrophic_lateral_sclerosis "Lower_motor_neuron_disease,_progressive,_without_sensory_symptoms" 8820 Septooptic_dysplasia Pituitary_hormone_deficiency 2815 Bernard-Soulier_syndrome 2811 Bernard-Soulier_syndrome 29958 Dimethylglycine_dehydrogenase_deficiency 2812 Bernard-Soulier_syndrome "Giant_platelet_disorder,_isolated" 4352 Thrombocytopenia 54361 Rokitansky-Kuster-Hauser_syndrome 3172 Diabetes_mellitus MODY 3176 Asthma 7080 "Chorea,_hereditary_benign" "Choreoathetosis,_hypothyroidism,_and_respiratory_distress" 5429 Xeroderma_pigmentosum 5428 Alpers_syndrome Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions "Sensory_ataxic_neuropathy,_dysarthria,_and_ophthalmoparesis" 1188 Bartter_syndrome 7086 Wernicke-Korsakoff_syndrome 1186 Osteopetrosis 1187 Bartter_syndrome 1184 Dent_disease Hypophosphatemia Nephrolithiasis Proteinuria 3373 Mucopolysaccharidosis 1180 Myotonia_congenita 1181 Epilepsy 720 Complementary_component_deficiency 721 Complementary_component_deficiency 1747 Amelogenesis_imperfecta Trichodontoosseous_syndrome 1741 Mental_retardation 729 Complementary_component_deficiency Combined_immunodeficiency 6496 Holoprosencephaly 1161 Cockayne_syndrome 114327 Myoclonic_epilepsy 6492 Obesity 4247 Carbohydrate-deficient_glycoprotein_syndrome 7038 Goiter Hypothyroidism Autoimmune_thyroid_disease 6949 Treacher_Collins_mandibulofacial_dysostosis 6948 Transcobalamin_II_deficiency 7132 "Periodic_fever,_familial" 11178 Esophageal_cancer 43 Blood_group 26762 Atopy 1298 Epiphyseal_dysplasia Intervertebral_disc_disease 1299 Epiphyseal_dysplasia Intervertebral_disc_disease 1292 Bethlem_myopathy Ullrich_congenital_muscular_dystrophy 1293 Bethlem_myopathy Ullrich_congenital_muscular_dystrophy 1290 Ehlers-Danlos_syndrome 1291 Bethlem_myopathy Ullrich_congenital_muscular_dystrophy 1296 Corneal_dystrophy Fuchs_endothelial_corneal_dystrophy 1565 Codeine_sensitivity Debrisoquine_sensitivity 1294 EBD Epidermolysis_bullosa "Toenail_dystrophy,_isolated" Transient_bullous_of_the_newborn 8557 Cardiomyopathy Muscular_dystrophy 9380 Hyperoxaluria 5257 "Phosphorylase_kinase_deficiency_of_liver_and_muscle,_autosomal_recessive" 5630 Amyotrophic_lateral_sclerosis 5631 Phosphoribosyl_pyrophosphate_synthetase-related_gout 472 Ataxia-telangiectasia Breast_cancer Lymphoma T-cell_lymphoblastic_leukemia 8481 Oral-facial-digital_syndrome 8483 Lumbar_disc_disease 477 Alternating_hemiplegia_of_childhood Migraine 478 Dystonia 3198 Athabaskan_brainstem_dysgenesis_syndrome Bosley-Salih-Alorainy_syndrome 7466 "Hearing_loss,_low-frequency_sensorineural" Wolfram_syndrome 1369 Carboxypeptidase_N_deficiency