Epilepsy,Epilepsy With Generalized Tonic-Clonic Seizures,Aortic Valve Prolapse,Gm1-Gangliosidosis, Type I,Gm1-Gangliosidosis, Type Ii

Connective Tissue Disease,Neonatal Leukemia,Distal Muscular Dystrophy With Anterior Tibial Onset,Spermatogenic Failure 50,Breast Adenocarcinoma,Theileriasis,Spermatogenic Failure 9

Nail Disease,Macroglobulinemia,Primary Mediastinal B-Cell Lymphoma,Epidermolysis Bullosa Acquisita,Mycobacterium Abscessus,Chronic Mucocutaneous Candidiasis,Allergic Disease,Fasciitis,B-Cell Lymphoma,Intraocular Retinoblastoma,Rapidly Progressive Glomerulonephritis,Primary Agammaglobulinemia,Angioimmunoblastic T-Cell Lymphoma,Leukemia, Acute Myeloid,Opportunistic Mycosis,Hematologic Cancer,Leukemia, Acute Lymphoblastic,Agammaglobulinemia,Autoimmune Disease,Arthritis,Subglottis Benign Neoplasm,Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1,Breast Cancer,Breast Fibrosarcoma,Leukocyte Adhesion Deficiency, Type I,Agammaglobulinemia 4, Autosomal Recessive,Dermatitis, Atopic,Hantavirus Pulmonary Syndrome,Cone-Rod Dystrophy 2,Urticaria,Chromoblastomycosis,Fungal Infectious Disease,Thrombocytopenia Due To Platelet Alloimmunization,Thrombocytopenia,Rheumatoid Arthritis,Phenytoin Allergy,Carbapenem Allergy,Co-Trimoxazole Allergy,Subcutaneous Mycosis,Lymphoma, Non-Hodgkin, Familial,Malaria,Agammaglobulinemia, X-Linked,Exanthem,Bleeding Disorder, Platelet-Type, 11,Immune Deficiency Disease,Wiskott-Aldrich Syndrome,Diffuse Large B-Cell Lymphoma,Mantle Cell Lymphoma,Peripheral T-Cell Lymphoma,Splenic Marginal Zone Lymphoma,Follicular Lymphoma,Colitis,Melnick-Needles Syndrome,Leukemia, Chronic Lymphocytic,Systemic Lupus Erythematosus,Asthma

Dilated Cardiomyopathy,Restrictive Cardiomyopathy,Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy,Familial Atrial Fibrillation

T-Cell Lymphoblastic Leukemia/Lymphoma,Nik Deficiency,Trichohepatoenteric Syndrome 1,Pancreatic Adenosquamous Carcinoma,Pancreatic Ductal Adenocarcinoma,Immunodeficiency 50

Spitzoid Melanoma,Megacolon,Neuroendocrine Tumor,Endocrine Gland Cancer,Endometrial Cancer,Intestinal Pseudo-Obstruction,Follicular Adenoma,Retinitis Pigmentosa,Thyroid Gland Cancer,Islet Cell Tumor,Amyloidosis,Renal Hypoplasia,Cakut,Achalasia,Medullary Sponge Kidney,Cowden Syndrome,Solid Adenocarcinoma With Mucin Production,Peripheral Nervous System Benign Neoplasm,Autonomic Nervous System Benign Neoplasm,Waardenburg'S Syndrome,Rare Tumor,Lung Non-Squamous Non-Small Cell Carcinoma,Thyroid Gland Anaplastic Carcinoma,Adenoma,Parathyroid Carcinoma,Sporadic Pheochromocytoma/Secreting Paraganglioma,Primary Peritoneal Carcinoma,Neuronal Intestinal Dysplasia, Type B,B-Lymphoblastic Leukemia/Lymphoma,Neuroma,B-Lymphoblastic Leukemia/Lymphoma With Hypodiploidy,Constipation,Esophagus Leiomyoma,Multicentric Papillary Thyroid Carcinoma,Tall Cell Variant Papillary Carcinoma,Goiter,Thyroiditis,Differentiated Thyroid Carcinoma,Motor Neuron Disease,Neurofibromatosis, Type I,Parathyroid Adenoma,Ganglioneuroma,Lymph Node Disease,Neuroblastoma,Multiple Endocrine Neoplasia, Type Iib,Pilocytic Astrocytoma,Inherited Cancer-Predisposing Syndrome,Hypertrophic Pyloric Stenosis,Testicular Spermatocytic Seminoma,Pyloric Stenosis,Hemangioma,Thyroid Gland Disease,Central Nervous System Hemangioma,Atypical Follicular Adenoma,Carney Complex Variant,Intestinal Obstruction,Struma Ovarii,Multiple Mucosal Neuroma,Pheochromocytoma-Paraganglioma,Hypoganglionosis,Sudden Infant Death Syndrome,Sensorineural Hearing Loss,Malignant Struma Ovarii,Benign Struma Ovarii,Thyroid Carcinoma,Hereditary Paraganglioma-Pheochromocytoma Syndromes,Thyroid Tumor,Hypermobile Ehlers-Danlos Syndrome,Lung Disease,Gingival Hypertrophy,Nodular Goiter,Skin Lipoma,Lichen Amyloidosis,Ovarian Germ Cell Teratoma,Primary Hyperoxaluria,Kidney Disease,Adenocarcinoma,Neurofibromatosis,Hyperparathyroidism,Charcot-Marie-Tooth Disease,Breast Cancer,Renal Agenesis, Bilateral,Adrenal Medulla Cancer,Colorectal Cancer,Gingival Overgrowth,Papillary Carcinoma,Multiple Endocrine Neoplasia,Nonencapsulated Sclerosing Carcinoma,Microcephaly,Pheochromocytoma,Goldberg-Shprintzen Syndrome,Multiple Endocrine Neoplasia, Type Iia,Tooth Disease,Waardenburg Syndrome, Type 4a,Renal Hypodysplasia/Aplasia 3,Hypoparathyroidism,Parathyroid Gland Disease,Primary Hyperparathyroidism,Hypothyroidism,Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1a,Multiple Endocrine Neoplasia, Type Iv,Lung Squamous Cell Carcinoma,Thyroid Gland Follicular Carcinoma,Thyroid Gland Medullary Carcinoma,Multiple Endocrine Neoplasia, Type I,Tetralogy Of Fallot,Alveolar Soft Part Sarcoma,Tumor Predisposition Syndrome,Autosomal Genetic Disease,Ewing Sarcoma,Paraganglioma,Hashimoto Thyroiditis,Renal Hypodysplasia/Aplasia 1,Hirschsprung Disease 1,Paraganglioma And Gastric Stromal Sarcoma,Vesicoureteral Reflux 1,Von Hippel-Lindau Syndrome,Parkinson Disease 8, Autosomal Dominant,Cutaneous Telangiectasia And Cancer Syndrome, Familial,Renal Cell Carcinoma, Nonpapillary,Extra-Adrenal Pheochromocytoma,Hypertelorism,Autoimmune Disease Of Endocrine System,Meningioma, Familial,Endocrine Organ Benign Neoplasm,Cardiovascular Organ Benign Neoplasm,Persistent Generalized Lymphadenopathy,Thyroid Carcinoma, Familial Medullary,Medulloblastoma,Central Hypoventilation Syndrome, Congenital,Familial Hypocalciuric Hypercalcemia,Lung Cancer,Pancreatic Cancer

Pancreatic Adenocarcinoma,Heart Disease,Learning Disability,Endometrial Cancer,Autosomal Dominant Polycystic Kidney Disease,Differentiating Neuroblastoma,Squamous Cell Carcinoma,Vascular Disease,Lung Cancer Susceptibility 3,Spinal Cord Injury,Polycystic Kidney Disease,Melanoma,Leukemia, Chronic Myeloid,Thyroid Gland Anaplastic Carcinoma,Diabetes Mellitus,Noonan Syndrome 13,Alzheimer Disease,Rasopathy,Retrograde Amnesia,Bile Duct Cancer,Specific Learning Disability,Human Cytomegalovirus Infection,Hepatitis,Mesangial Proliferative Glomerulonephritis,Insulin-Like Growth Factor I,Neuroblastoma,Angioimmunoblastic T-Cell Lymphoma,Glioma,Noonan Syndrome 1,Dilated Cardiomyopathy,Bladder Cancer,Lung Adenoma,Pediculus Humanus Corporis Infestation,Cystic Kidney Disease,Ovarian Cancer,Myeloid Leukemia,Burkitt Lymphoma,Tuberous Sclerosis,Breast Cancer,Glioblastoma,Squamous Cell Carcinoma, Head And Neck,Microphthalmia,Colorectal Cancer,Hepatocellular Carcinoma,Cardiofaciocutaneous Syndrome 1,Microcephaly,Opioid Addiction,Pheochromocytoma,Rhabdomyosarcoma,Hepatitis C Virus,Alacrima, Achalasia, And Mental Retardation Syndrome,Mood Disorder,Esophagus Sarcoma,Sarcoma,Anhidrosis,Pertussis,Fibrosarcoma,Skin Carcinoma,Gastric Cancer,Breast Adenocarcinoma,Prostate Cancer,Disease Of Mental Health,Cholangiocarcinoma,Cervical Cancer,Bladder Squamous Cell Carcinoma,Fragile X Syndrome,Bladder Urothelial Carcinoma,Esophageal Cancer,Muscle Hypertrophy,Fibrodysplasia Ossificans Progressiva,Chromosome 22q11.2 Deletion Syndrome, Distal,Ewing Sarcoma,Heart, Malformation Of,Acute Promyelocytic Leukemia,Kaposi Sarcoma,Cardiomyopathy, Familial Hypertrophic, 25,Lung Cancer,Gordon Holmes Syndrome,Pancreatic Cancer

Lung Cancer Susceptibility 3,Large Cell Carcinoma,Lung Large Cell Carcinoma,Adenocarcinoma,Leber Congenital Amaurosis 17,Polyneuropathy Due To Drug,Lung Cancer

Tuberous Sclerosis 2,Tuberous Sclerosis,Cardiomyopathy, Familial Hypertrophic, 4,Disease Of Mental Health,Adrenal Cortical Adenocarcinoma,Dyskeratosis Congenita, Autosomal Dominant 3,Tuberous Sclerosis 1,Coffin-Lowry Syndrome,Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease

Epilepsy,Polyhydramnios,Endometrial Squamous Cell Carcinoma,Breast Cancer,Megalencephaly,Benign Epilepsy With Centrotemporal Spikes,Scheuermann Disease,Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy

Zellweger Syndrome,Colorectal Cancer,Attention Deficit-Hyperactivity Disorder,Chemical Colitis,Band Heterotopia

Breast Cancer

Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease

Severe Combined Immunodeficiency,Childhood Acute Lymphocytic Leukemia,Retinitis Pigmentosa,Myeloid And Lymphoid Neoplasms Associated With Fgfr1 Abnormalities,Chronic Myelomonocytic Leukemia,Patau Syndrome,Chronic Eosinophilic Leukemia,Leukemia, Chronic Myeloid,Plasma Cell Neoplasm,B-Lymphoblastic Leukemia/Lymphoma,Leukocyte Disease,Core Binding Factor Acute Myeloid Leukemia,Blood Platelet Disease,Myeloproliferative Neoplasm,Neutropenia,Aggressive Systemic Mastocytosis,Leukemia,Mixed Phenotype Acute Leukemia,Blood Coagulation Disease,Neutrophilia, Hereditary,Acute Leukemia,Leukemia, Acute Myeloid,Acute Myeloid Leukemia With Minimal Differentiation,Bone Marrow Cancer,Myelodysplastic/Myeloproliferative Neoplasm,Hematologic Cancer,Leukemia, Acute Lymphoblastic,Combined Immunodeficiency,Cebpa-Associated Familial Acute Myeloid Leukemia,Autoimmune Disease,Etv6 Thrombocytopenia And Predisposition To Leukemia,Acute Myeloid Leukemia With T(8;21)(Q22;Q22) Translocation,Leukostasis,Bilirubin Metabolic Disorder,Precursor T-Cell Acute Lymphoblastic Leukemia,Monocytic Leukemia,Chronic Leukemia,Aplastic Anemia,Myeloid Sarcoma,Myeloid Leukemia,T-Cell Acute Lymphoblastic Leukemia,Subacute Myeloid Leukemia,Acute Megakaryocytic Leukemia,Acute Myeloblastic Leukemia With Maturation,Acute Myeloblastic Leukemia Without Maturation,Acute Myeloid Leukemia With Abnormal Bone Marrow Eosinophils Inv(16)(P13q22) Or T(16;16)(P13;Q22),Cytogenetically Normal Acute Myeloid Leukemia,8p11 Myeloproliferative Syndrome,Deficiency Anemia,Fanconi Anemia, Complementation Group A,Leukemia, Acute Lymphoblastic 3,Cellulitis,Mastocytosis,Thrombocytopenia,Mast Cell Neoplasm,Lymphoma, Non-Hodgkin, Familial,Immunodeficiency 21,Severe Congenital Neutropenia,Myelodysplastic Syndrome,Gastrointestinal Stromal Tumor,Acute Promyelocytic Leukemia,Renal Cell Carcinoma, Nonpapillary,Wilms Tumor 1,Leukemia, Acute Monocytic,Leukemia, Chronic Lymphocytic,Juvenile Myelomonocytic Leukemia,Myelofibrosis,Myeloma, Multiple,Atypical Chronic Myeloid Leukemia,Childhood Acute Myeloid Leukemia

Pancreatic Adenocarcinoma,Familial Renal Papillary Carcinoma,Renal Oncocytoma,Nasopharyngeal Carcinoma 3,Gastroesophageal Adenocarcinoma,Plasma Cell Neoplasm,Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone With Or Without Frontotemporal Dementia 1,Perinephritis,Adenocarcinoma,Breast Cancer,Papillary Adenocarcinoma,Renal Cell Carcinoma, Papillary, 1,Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia,Renal Cell Carcinoma, Nonpapillary,Nasopharyngeal Carcinoma,Myeloma, Multiple,Pancreatic Cancer

Tracheitis

Spitzoid Melanoma,Breast Implant-Associated Anaplastic Large Cell Lymphoma,Skin Melanoma,Pneumothorax,Ganglioneuroblastoma,Lymphomatoid Papulosis,Retinitis Pigmentosa,Thyroid Gland Cancer,Peritoneal Mesothelioma,Lung Cancer Susceptibility 3,Occipital Lobe Neoplasm,Liver Leiomyoma,Signet Ring Lung Adenocarcinoma,Rhabdomyosarcoma 2,Peripheral Nervous System Benign Neoplasm,Autonomic Nervous System Benign Neoplasm,Acantholytic Acanthoma,Epithelioid Inflammatory Myofibroblastic Sarcoma,Lymphangitis,Heart Lymphoma,Lung Non-Squamous Non-Small Cell Carcinoma,Thyroid Gland Anaplastic Carcinoma,Pericardial Effusion,Pulmonary Large Cell Neuroendocrine Carcinoma,Fibrous Histiocytoma,B-Lymphoblastic Leukemia/Lymphoma,Peripheral Nervous System Neoplasm,Bone Lymphoma,B-Lymphoblastic Leukemia/Lymphoma With Hyperdiploidy,Acute Maxillary Sinusitis,Amelogenesis Imperfecta, Type Ia,Intravascular Fasciitis,B-Cell Lymphoma,Atypical Teratoid Rhabdoid Tumor,Lung Sarcomatoid Carcinoma,Pseudosarcomatous Fibromatosis,Differentiated Thyroid Carcinoma,Perineurioma,Adenosquamous Lung Carcinoma,Neuroblastoma,Pilocytic Astrocytoma,Maxillary Sinus Inverted Papilloma,Leukemia, Acute Myeloid,Alk-Related Neuroblastic Tumor Susceptibility,Neuroblastoma 3,Hematologic Cancer,Leber Plus Disease,Inflammatory Liposarcoma,Anaplastic/Large Cell Medulloblastoma,Congenital Fibrosarcoma,Autonomic Nervous System Neoplasm,Benign Fibrous Mesothelioma,Nodular Ganglioneuroblastoma,Malignant Giant Cell Tumor Of The Tendon Sheath,Paronychia,Urethra Clear Cell Adenocarcinoma,Brain Cancer,Pleural Lipoma,Breast Lipoma,Lipoma Of Spermatic Cord,Paratesticular Lipoma,Reticulosarcoma,Sezary'S Disease,Alk-Positive Large B-Cell Lymphoma,Perinephritis,Adenocarcinoma,T-Cell Adult Acute Lymphocytic Leukemia,Mucinous Adenocarcinoma,Maxillary Sinus Benign Neoplasm,Lung Carcinoma In Situ,Lymphoepithelioma-Like Carcinoma,Breast Cancer,Pleomorphic Carcinoma,Glioblastoma,Colorectal Cancer,Peripheral Nervous System Disease,Alk+ Histiocytosis,Pediatric Lymphoma,Adult Lymphoma,Breast Lymphoma,Primary Cutaneous Anaplastic Large Cell Lymphoma,Alk-Positive Anaplastic Large Cell Lymphoma,Alk-Negative Anaplastic Large Cell Lymphoma,Rhabdomyosarcoma,Sarcoma,Mesenchymal Cell Neoplasm,Fibrosarcoma,Histiocytosis,Skin Carcinoma,Kyasanur Forest Disease,Pediatric Fibrosarcoma,Respiratory System Disease,Carbapenem Allergy,Large Cell Medulloblastoma,Lung Squamous Cell Carcinoma,Thyroid Gland Follicular Carcinoma,Sarcomatoid Transitional Cell Carcinoma,Lymphoma, Non-Hodgkin, Familial,Lymphoma, Hodgkin, Classic,Skeletal Muscle Cancer,Muscle Cancer,Small Cell Carcinoma,Mature T-Cell And Nk-Cell Lymphoma,Anaplastic Large Cell Lymphoma,Diffuse Large B-Cell Lymphoma,Ewing Sarcoma,Peripheral T-Cell Lymphoma,Pericardium Disease,Pulmonary Adenocarcinoma In Situ,Large Cell Neuroendocrine Carcinoma,Inflammatory Myofibroblastic Tumor,Lymphoma,Parameningeal Embryonal Rhabdomyosarcoma,Mycosis Fungoides,Medulloblastoma,Central Hypoventilation Syndrome, Congenital,Lymphoproliferative Syndrome,Neuroblastoma 1,Retinitis Pigmentosa 11,Lung Cancer

Melanoma,Leukemia, Chronic Myeloid,Latent Syphilis,Sjogren-Larsson Syndrome,Leukemia,Myeloid Leukemia,Sarcoma,Ewing Sarcoma Of Bone,Neurofibrosarcoma,Acute Promyelocytic Leukemia,Miller-Dieker Lissencephaly Syndrome,Myopathy, Centronuclear, 2

Pancreatic Adenocarcinoma,Endometrial Cancer,Smooth Muscle Tumor,Melanoma,Endometrial Hyperplasia,Leukemia, Chronic Myeloid,Leiomyosarcoma,Ocular Cancer,Retinal Cancer,Neuroblastoma,Leukemia, Acute Myeloid,Leukemia, Acute Lymphoblastic,Bladder Cancer,Lung Adenoma,Laryngeal Squamous Cell Carcinoma,Ovarian Cancer,Testicular Cancer,Eye Disease,Uterine Sarcoma,Breast Cancer,Glioblastoma,Squamous Cell Carcinoma, Head And Neck,Colorectal Cancer,Nervous System Cancer,Hepatocellular Carcinoma,Microcephaly,Pheochromocytoma,Skin Carcinoma,Gastric Cancer,Prostate Cancer,Cervical Cancer,Cecal Benign Neoplasm,Retinoblastoma,Sensory System Disease,Trichothiodystrophy 5, Nonphotosensitive,Mantle Cell Lymphoma,Gastrointestinal Stromal Tumor,Cecum Adenoma,Leukemia, Chronic Lymphocytic,Ataxia-Telangiectasia,Melanoma, Cutaneous Malignant 1,Lung Cancer,Pancreatic Cancer

Squamous Cell Carcinoma,Childhood Acute Lymphocytic Leukemia,Lung Cancer Susceptibility 3,Adenoid Cystic Carcinoma,Cholecystitis,Alzheimer Disease,B-Cell Lymphoma,Mixed Oligodendroglioma-Astrocytoma,Transitional Cell Carcinoma,Bladder Cancer,Tuberous Sclerosis 2,Parkinson Disease, Late-Onset,Colorectal Cancer,Pediatric Lymphoma,Oligodendroglioma,Central Neurocytoma,Ischemia,Gastric Cancer,Pancreatic Ductal Adenocarcinoma,Cholangiocarcinoma,Cervical Cancer,Cervical Squamous Cell Carcinoma,Myelodysplastic Syndrome,Nasopharyngeal Carcinoma,Lung Cancer

Dilated Cardiomyopathy,Cardiomyopathy, Dilated, 1dd

Niemann-Pick Disease, Type C1

Testicular Germ Cell Tumor

Psoriasis,Pancreatic Adenocarcinoma,Corneal Neovascularization,Mesothelioma, Malignant,Skin Melanoma,Pneumothorax,Heart Disease,Neovascular Glaucoma,Endocrine Gland Cancer,Retinal Vein Occlusion,Retinal Vascular Occlusion,Vascular Cancer,Retinitis Pigmentosa,Thyroid Gland Cancer,Ovarian Hyperstimulation Syndrome,Lung Cancer Susceptibility 3,Chronic Myelomonocytic Leukemia,Bone Cancer,Microvascular Complications Of Diabetes 5,Mast-Cell Leukemia,Melanoma,Malignant Ciliary Body Melanoma,Lung Non-Squamous Non-Small Cell Carcinoma,Diabetes Mellitus,Degeneration Of Macula And Posterior Pole,Macular Retinal Edema,Clear Cell Renal Cell Carcinoma,Septate Uterus,Primary Cutaneous B-Cell Lymphoma,Myocardial Infarction,Breast Angiosarcoma,Eye Degenerative Disease,Placenta Accreta,Cavernous Hemangioma,Neuroblastoma,Pilocytic Astrocytoma,Epithelioid Hemangioendothelioma,Arteriovenous Malformations Of The Brain,Olecranon Bursitis,Pulmonary Vein Stenosis,Retinal Vascular Disease,Gastroesophageal Junction Adenocarcinoma,Leukemia, Acute Myeloid,Capillary Disease,Hematologic Cancer,Hemangioma,Radiation Proctitis,Kidney Cancer,Leukostasis,Aortic Valve Disease 1,Hemangioblastoma,Bladder Cancer,Capillary Hemangioma,Heritable Pulmonary Arterial Hypertension,Retinal Artery Occlusion,Fundus Dystrophy,Parasitic Protozoa Infectious Disease,Kaposiform Hemangioendothelioma,Nodular Goiter,Background Diabetic Retinopathy,Endometriosis,Pediculus Humanus Capitis Infestation,Vein Disease,Bursitis,Ovarian Cancer,Hemangioma, Capillary Infantile,Adenocarcinoma,Pre-Eclampsia,Eye Disease,Cervical Adenosquamous Carcinoma,Breast Carcinoma In Situ,Breast Cancer,Glioblastoma,Squamous Cell Carcinoma, Head And Neck,Rosacea,High Grade Glioma,Gliosarcoma,Colorectal Cancer,Familial Hypercholesterolemia,Hepatocellular Carcinoma,Proctitis,Premature Menopause,8p11 Myeloproliferative Syndrome,Clopidogrel Resistance,Kuhnt-Junius Degeneration,Angiokeratoma Of Mibelli,Angiokeratoma Circumscriptum,Pheochromocytoma,Rhabdomyosarcoma,Ischemia,Cerebral Cavernous Malformations,Conjunctival Vascular Disease,Macular Degeneration, Age-Related, 1,Sarcoma,Hantavirus Pulmonary Syndrome,Fibrosarcoma Of Bone,Skin Carcinoma,Gastric Cancer,Lymphangioma,Mobitz Type Ii Atrioventricular Block,Prostate Cancer,Disease Of Mental Health,Coats Disease,Microvascular Complications Of Diabetes 1,Pulmonary Hypertension,Type 2 Diabetes Mellitus,Angiosarcoma,Drug-Induced Lupus Erythematosus,Placental Insufficiency,Thyroid Gland Follicular Carcinoma,Merkel Cell Carcinoma,Thyroid Gland Medullary Carcinoma,Renal Cell Carcinoma, Papillary, 1,Esophageal Cancer,Exudative Vitreoretinopathy 1,Tetralogy Of Fallot,Myelodysplastic Syndrome,Sorsby Fundus Dystrophy,Ewing Sarcoma,Gastrointestinal Stromal Tumor,Varicose Veins,Hirschsprung Disease 1,Limb Ischemia,Bone Squamous Cell Carcinoma,Renal Cell Carcinoma, Nonpapillary,Mucosal Melanoma,Hypertension, Essential,Lipoprotein Quantitative Trait Locus,Cardiovascular Organ Benign Neoplasm,Intussusception,Moyamoya Disease 1,Premature Ovarian Failure 1,Medulloblastoma,Lung Cancer,Pancreatic Cancer

Glaucoma 3, Primary Infantile, B,Psoriasis,Corneal Neovascularization,Pulmonary Edema,Heart Disease,Diabetic Macular Edema,Microvascular Complications Of Diabetes 5,Goiter,Intramuscular Hemangioma,Placenta Accreta,Non-Gestational Ovarian Choriocarcinoma,Glomangioma,Arteriovenous Malformations Of The Brain,Pyogenic Granuloma,Retinal Vascular Disease,Familial Glomangioma,Glaucoma 3, Primary Congenital, E,Leukemia, Acute Myeloid,Capillary Disease,Hemangioma,Benign Perivascular Tumor,Arthritis,Capillary Hemangioma,Blue Rubber Bleb Nevus,Ovarian Cancer,Breast Cancer,Malignant Renovascular Hypertension,Malignant Secondary Hypertension,Colorectal Cancer,Stork Bite,Kuhnt-Junius Degeneration,Angiokeratoma Circumscriptum,Ischemia,Cerebral Cavernous Malformations,Corneal Edema,Macular Degeneration, Age-Related, 1,Breast Disease,Arteriovenous Malformation,Pulmonary Hypertension,Glaucoma 3, Primary Congenital, A,Intermittent Claudication,Skin Disease,Rheumatoid Arthritis,Angiosarcoma,Placental Insufficiency,Exudative Vitreoretinopathy 1,Primary Congenital Glaucoma,Gastrointestinal Stromal Tumor,Limb Ischemia,Renal Cell Carcinoma, Nonpapillary,Hypertension, Essential,Lipoprotein Quantitative Trait Locus,Intussusception,Klippel-Trenaunay-Weber Syndrome,Venous Malformations, Multiple Cutaneous And Mucosal

Adult-Onset Still'S Disease

Cask-Related Disorders,Cerebellar Hypoplasia,Constipation,Congenital Nystagmus,Pathologic Nystagmus,Neurofibromatosis, Type I,Fraser Syndrome 1,Cask Disorders,Cerebellar Disease,Dystonia,Glucosephosphate Dehydrogenase Deficiency,Lobular Neoplasia,X-Linked Intellectual Disability, Najm Type,Cask-Related Intellectual Disability,Microcephaly,Hypertonia,Alacrima, Achalasia, And Mental Retardation Syndrome,Disease Of Mental Health,Fg Syndrome 4,Helsmoortel-Van Der Aa Syndrome,Aland Island Eye Disease,Developmental And Epileptic Encephalopathy 8,Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia,Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency,Coffin-Siris Syndrome 1,Early Infantile Epileptic Encephalopathy,Opitz-Kaveggia Syndrome,Pontocerebellar Hypoplasia,Autism,Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay,Peho Syndrome

Fungal Meningitis,Neuroaspergillosis,Mental Retardation, Autosomal Dominant 7

Skin Melanoma,Retinitis Pigmentosa,Neonatal Diabetes,Prion Disease,Diabetes Mellitus,Alzheimer Disease,Rasopathy,Retinal Degeneration,Subungual Glomus Tumor,Crisponi/Cold-Induced Sweating Syndrome 1,Osteoporosis,Wolfram Syndrome,Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus,Disease Of Mental Health,Leukoencephalopathy With Vanishing White Matter,Odontochondrodysplasia,Trichothiodystrophy 5, Nonphotosensitive,Cardiomyopathy, Familial Hypertrophic, 25,Permanent Neonatal Diabetes Mellitus,Palmoplantar Keratoderma, Bothnian Type

Acanthosis Nigricans,Liver Disease,Heart Disease,Autosomal Dominant Polycystic Kidney Disease,Hyperglycemia,Hypertrichosis,Islet Cell Tumor,Myopathy,Polycystic Ovary Syndrome,Hyperandrogenism,Non-Alcoholic Fatty Liver Disease,Gestational Diabetes,Prediabetes Syndrome,Diabetes Mellitus,Fatty Liver Disease,Hyperinsulinism,Alzheimer Disease,Myotonic Disease,Myotonic Dystrophy 1,Fasting Hypoglycemia,Insulin-Like Growth Factor I,Fetal Macrosomia,Hypoglycemia,Liver Cirrhosis,Migraine With Aura,Insr-Related Severe Syndromic Insulin Resistance,Pigmentation Disease,Type 1 Diabetes Mellitus,Hyperinsulinemic Hypoglycemia,Ovarian Cancer,Adenocarcinoma,Glucose Intolerance,Breast Cancer,Colorectal Cancer,Lipid Metabolism Disorder,Ovarian Disease,Hyperinsulinemic Hypoglycemia, Familial, 5,Hyperinsulinemic Hypoglycemia, Familial, 4,Centronuclear Myopathy,Body Mass Index Quantitative Trait Locus 11,Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans,Type 2 Diabetes Mellitus,Abdominal Obesity-Metabolic Syndrome 1,Congenital Generalized Lipodystrophy,Maturity-Onset Diabetes Of The Young,Donohue Syndrome,Hypertension, Essential,Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities

Mitral Valve Disease,Retinitis Pigmentosa,Cowden Syndrome,Pyriform Sinus Cancer,Cowden Syndrome 1,Placental Choriocarcinoma,Uterus Perivascular Epithelioid Cell Tumor,Subependymal Glioma,Benign Ependymoma,Leukemia, Acute Myeloid,Nephronophthisis,Kidney Angiomyolipoma,Aortic Disease,Skin Amelanotic Melanoma,Ovarian Cancer,Tuberous Sclerosis 2,Tuberous Sclerosis,Breast Cancer,Glioblastoma,Colorectal Cancer,Hepatocellular Carcinoma,Rhabdomyosarcoma,Acute Laryngopharyngitis,Gastric Cancer,Prostate Cancer,Disease Of Mental Health,Body Mass Index Quantitative Trait Locus 11,Type 2 Diabetes Mellitus,Diamond-Blackfan Anemia 20,Esophageal Cancer,Muscle Hypertrophy,Mantle Cell Lymphoma,Tuberous Sclerosis 1,Lymphangioleiomyomatosis,Leukodystrophy, Hypomyelinating, 12,Lung Cancer,Palmoplantar Keratoderma, Bothnian Type,Pancreatic Cancer

Lymphopenia,Reticular Dysgenesis,Severe Combined Immunodeficiency,Myeloproliferative Syndrome, Transient,Common Variable Immunodeficiency,Myeloproliferative Neoplasm,Leukemia,Childhood Leukemia,Leukemia, Acute Myeloid,Leukemia, Acute Lymphoblastic,Combined Immunodeficiency,Autoimmune Disease,T-B- Severe Combined Immunodeficiency,Geotrichosis,Sezary'S Disease,T-Cell Prolymphocytic Leukemia,Prolymphocytic Leukemia,Nk-Cell Enteropathy,T-Cell Adult Acute Lymphocytic Leukemia,T-Cell Acute Lymphoblastic Leukemia,Acute Megakaryocytic Leukemia,Adenosine Deaminase Deficiency,Jak3-Deficient Severe Combined Immunodeficiency,Alk-Positive Anaplastic Large Cell Lymphoma,Hyper Ige Recurrent Infection Syndrome 1,Chronic Granulomatous Disease,Omenn Syndrome,Severe Combined Immunodeficiency, X-Linked,Adult T-Cell Leukemia,Immunodeficiency 35,Immune Deficiency Disease,Immunodeficiency 63 With Lymphoproliferation And Autoimmunity,Mature T-Cell And Nk-Cell Lymphoma,Anaplastic Large Cell Lymphoma,Peripheral T-Cell Lymphoma,Down Syndrome,Lymphoblastic Leukemia, Acute, With Lymphomatous Features,Bone Squamous Cell Carcinoma,Janus Kinase-3 Deficiency,Cd40 Ligand Deficiency,Jacobsen Syndrome,Alopecia Universalis Congenita,Juvenile Myelomonocytic Leukemia,Myelofibrosis,Bare Lymphocyte Syndrome, Type Ii,Lung Cancer,Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative,Polycythemia Vera

Thymic Neuroendocrine Tumor,Prolapse Of Urethra,Gastroesophageal Junction Adenocarcinoma,Neurofibromatosis,Breast Cancer,Colorectal Cancer,Gastric Cancer,Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay,Helicobacter Pylori Infection

Autosomal Thrombocytopenia With Normal Platelets,Sick Building Syndrome,Thrombocytopenia,Thrombocytopenia 2,Gray Platelet Syndrome,Ceroid Lipofuscinosis, Neuronal, 2

Cdkl5 Deficiency Disorder,Ohtahara Syndrome,Seizure Disorder,Childhood Absence Epilepsy,Epilepsy,Gait Apraxia,Gene Duplication Disease,Nicolaides-Baraitser Syndrome,Amyotrophic Lateral Sclerosis 1,Angelman Syndrome,Focal Epilepsy,Developmental And Epileptic Encephalopathy 14,Epilepsy With Generalized Tonic-Clonic Seizures,Congenital Nervous System Abnormality,Developmental And Epileptic Encephalopathy,Fundus Dystrophy,Juvenile Retinoschisis,Bruxism,X-Linked Congenital Retinoschisis,Early Myoclonic Encephalopathy,Stxbp1 Encephalopathy,Microcephaly,Mental Retardation, Autosomal Dominant 20,Encephalopathy,Benign Neonatal Seizures,Alacrima, Achalasia, And Mental Retardation Syndrome,Benign Epilepsy With Centrotemporal Spikes,Developmental And Epileptic Encephalopathy 9,Methylmalonic Acidemia,Benign Familial Neonatal Epilepsy,West Syndrome,Disease Of Mental Health,Lubs X-Linked Mental Retardation Syndrome,Fragile X Syndrome,Pitt-Hopkins Syndrome,Mowat-Wilson Syndrome,Developmental And Epileptic Encephalopathy 2,Lennox-Gastaut Syndrome,Sturge-Weber Syndrome,Neonatal Period Electroclinical Syndrome,Infancy Electroclinical Syndrome,Childhood Electroclinical Syndrome,Early Infantile Epileptic Encephalopathy,Developmental And Epileptic Encephalopathy 4,Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency,Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1,Aicardi Syndrome,Specific Developmental Disorder,Pervasive Developmental Disorder,Dravet Syndrome,Developmental And Epileptic Encephalopathy 1,Benign Familial Infantile Epilepsy,Generalized Epilepsy With Febrile Seizures Plus,Pyruvate Dehydrogenase E1-Alpha Deficiency,Retinoschisis 1, X-Linked, Juvenile,Rett Syndrome,Epilepsy, Myoclonic Juvenile,Autism,Christianson Syndrome,Epilepsy, Idiopathic Generalized,Peho Syndrome

Retinitis Pigmentosa,Polyploidy,Plasma Protein Metabolism Disease,Primary Central Nervous System Lymphoma,Diamond-Blackfan Anemia,Myeloid Leukemia,Prostate Cancer,Mantle Cell Lymphoma

Adult Hepatocellular Carcinoma,Breast Papillomatosis,Esophageal Disease,Pancreatic Adenocarcinoma,Muscular Disease,Skin Melanoma,Liver Disease,Mitral Valve Disease,Heart Disease,Neurofibromatosis, Type Ii,Endometrial Cancer,Bile Duct Disease,Spinal Chordoma,Hepatopulmonary Syndrome,Squamous Cell Carcinoma,Pfeiffer Syndrome,Glucose Metabolism Disease,Childhood T-Cell Acute Lymphoblastic Leukemia,Hyperglycemia,Retinitis Pigmentosa,Thyroid Gland Cancer,Hair Disease,Macroglobulinemia,Lung Cancer Susceptibility 3,Kagami-Ogata Syndrome,Adenoid Cystic Carcinoma,Non-Alcoholic Fatty Liver Disease,Chordoma,Cowden Syndrome,Polycystic Kidney Disease,Microvascular Complications Of Diabetes 5,Suppression Of Tumorigenicity 12,Melanoma,Connective Tissue Disease,Ocular Hypertension,Leukemia, Chronic Myeloid,Overnutrition,Inherited Metabolic Disorder,Thyroid Gland Anaplastic Carcinoma,Diabetes Mellitus,Adenoma,Spherocytosis, Type 5,Cowden Syndrome 1,Breast Juvenile Papillomatosis,Lipid Storage Disease,Peripheral Nervous System Neoplasm,Uterine Corpus Cancer,Connective Tissue Cancer,Bone Sarcoma,Hypertrophic Cardiomyopathy,Placental Choriocarcinoma,Leukocyte Disease,Clear Cell Renal Cell Carcinoma,Hyperostosis,Alzheimer Disease,Hepatoblastoma,Rasopathy,Nasopharyngeal Disease,Myocardial Infarction,Major Depressive Disorder,Bile Duct Cancer,Intestinal Benign Neoplasm,Stroke, Ischemic,Teeth Hard Tissue Disease,Amyotrophic Lateral Sclerosis 1,Malignant Ovarian Surface Epithelial-Stromal Neoplasm,Ovary Epithelial Cancer,T-Cell Lymphoblastic Leukemia/Lymphoma,Ocular Cancer,Amelogenesis Imperfecta,Retinal Cancer,Blood Platelet Disease,Biliary Tract Disease,Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi,Infratentorial Cancer,Leptin Deficiency Or Dysfunction,Lymphatic System Disease,Neurofibromatosis, Type I,Insulin-Like Growth Factor I,Neuroblastoma,Colonic Benign Neoplasm,Subependymal Glioma,Blood Coagulation Disease,Benign Ependymoma,Pilocytic Astrocytoma,Diffuse Astrocytoma,Childhood Leukemia,Bile Duct Adenocarcinoma,Hemangioma Of Lung,Nevus, Epidermal,Distal Muscular Dystrophy With Anterior Tibial Onset,Retinal Vascular Disease,Psychotic Disorder,Leukemia, Acute Myeloid,Noonan Syndrome 1,Bone Marrow Cancer,Leber Plus Disease,Hemangioma,Leukemia, Acute Lymphoblastic,Cataract,Combined Immunodeficiency,Liver Cirrhosis,Pancreas Disease,Papilloma,Cardiovascular System Disease,Autonomic Nervous System Neoplasm,Kidney Cancer,Pleural Cancer,Basal Cell Nevus Syndrome,Cowden Syndrome 6,Bladder Cancer,Focal Segmental Glomerulosclerosis,Epithelial-Myoepithelial Carcinoma,Thymus Gland Disease,Brain Cancer,Colonic Disease,Lung Adenoma,Lung Oat Cell Carcinoma,Endometrial Adenocarcinoma,Oropharynx Cancer,Cervix Carcinoma,Ulcerative Colitis,Nervous System Disease,Osteoporosis,Anal Squamous Cell Carcinoma,Ovarian Cancer,Adenocarcinoma,Tuberous Sclerosis 2,In Situ Carcinoma,Tuberous Sclerosis,T-Cell Acute Lymphoblastic Leukemia,Eye Disease,Acute Megakaryocytic Leukemia,Breast Carcinoma In Situ,Breast Cancer,Glioblastoma,Squamous Cell Carcinoma, Head And Neck,Malignant Astrocytoma,Gliosarcoma,Parkinson Disease, Late-Onset,Colorectal Cancer,Peripheral Nervous System Disease,Nervous System Cancer,Ovarian Serous Cystadenocarcinoma,Cystadenocarcinoma,Serous Cystadenocarcinoma,Gallbladder Cancer,Hepatocellular Carcinoma,Premature Menopause,Combined Hepatocellular Carcinoma And Cholangiocarcinoma,Skin Papilloma,Partial Third-Nerve Palsy,Neurilemmoma,Rhabdomyosarcoma,Ischemia,Tongue Disease,Chronic Granulomatous Disease,Thymoma,Thymus Cancer,Ovarian Disease,Noonan Syndrome With Multiple Lentigines,Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease,Teratoma,Bipolar Disorder,Macular Degeneration, Age-Related, 1,Immunodeficiency 14,Sarcoma,Bone Osteosarcoma,Skin Carcinoma,Gastric Cancer,Breast Adenocarcinoma,Cone-Rod Dystrophy 2,Prostate Cancer,Disease Of Mental Health,Pancreatic Ductal Adenocarcinoma,Cholangiocarcinoma,Proteus Syndrome,Cervical Cancer,Toxic Encephalopathy,Ovarian Cystadenocarcinoma,Body Mass Index Quantitative Trait Locus 11,Penile Disease,Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1a,Central Nervous System Cancer,Pulmonary Fibrosis, Idiopathic,Congenital Myasthenic Syndrome,Retinitis Pigmentosa 47,Respiratory System Disease,Integumentary System Disease,Skin Disease,Cervical Adenocarcinoma,Ovary Adenocarcinoma,Gastric Adenocarcinoma,Type 2 Diabetes Mellitus,Plasmacytoma,Cervical Squamous Cell Carcinoma,Lynch Syndrome,Hidradenoma,Lung Squamous Cell Carcinoma,Fragile X Syndrome,Thyroid Gland Follicular Carcinoma,Schizophrenia,Sensory System Disease,Bladder Urothelial Carcinoma,Lymphoma, Non-Hodgkin, Familial,Skeletal Muscle Cancer,Muscle Cancer,Small Cell Cancer Of The Lung,Immunodeficiency 36,Hypotrichosis 1,Exanthem,Esophageal Cancer,Severe Congenital Neutropenia,Respiratory System Benign Neoplasm,Reproductive Organ Benign Neoplasm,Gastrointestinal System Benign Neoplasm,Immune Deficiency Disease,Myelodysplastic Syndrome,Meningioma, Radiation-Induced,Wiskott-Aldrich Syndrome,X-Linked Monogenic Disease,Autosomal Genetic Disease,Diffuse Large B-Cell Lymphoma,Ewing Sarcoma,Mantle Cell Lymphoma,Peripheral T-Cell Lymphoma,Tuberous Sclerosis 1,Hashimoto Thyroiditis,Gastrointestinal Stromal Tumor,Diabetic Encephalopathy,Tongue Squamous Cell Carcinoma,Oral Squamous Cell Carcinoma,Huntington Disease,Renal Cell Carcinoma, Nonpapillary,Nasopharyngeal Carcinoma,Hypertension, Essential,Meningioma, Familial,Pre-Malignant Neoplasm,Lymphatic System Cancer,Ductal Carcinoma In Situ,Estrogen-Receptor Positive Breast Cancer,Cell Type Benign Neoplasm,Cardiovascular Organ Benign Neoplasm,Uterine Benign Neoplasm,Acquired Metabolic Disease,Kaposi Sarcoma,Colitis,Klippel-Trenaunay-Weber Syndrome,Gallbladder Disease,Leukemia, Chronic Lymphocytic,Amelogenesis Imperfecta, Type Ig,Systemic Lupus Erythematosus,Pelizaeus-Merzbacher Disease,Rett Syndrome,Myeloma, Multiple,Medulloblastoma,Spinal Disease,Autism,Melanoma, Cutaneous Malignant 1,Melanoma, Uveal,Lymphoproliferative Syndrome,Lung Cancer,Palmoplantar Keratoderma, Bothnian Type,Oculoectodermal Syndrome,Osteogenic Sarcoma,Pancreatic Cancer

Lung Large Cell Carcinoma,Alacrima, Achalasia, And Mental Retardation Syndrome,Disease Of Mental Health,Crouzon Syndrome With Acanthosis Nigricans,Systemic Lupus Erythematosus,Gingival Fibromatosis

Cardiomyopathy, Familial Restrictive, 2,Deafness, Autosomal Recessive 17,Deafness, Autosomal Recessive 14,Cardiomyopathy, Familial Restrictive, 3

Congenital Nervous System Abnormality,Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome,Colorectal Cancer,Microcephaly,Seckel Syndrome,Microcephaly And Chorioretinopathy, Autosomal Recessive, 2,Isolated Growth Hormone Deficiency,Primary Autosomal Recessive Microcephaly,Joubert Syndrome 1,Isolated Growth Hormone Deficiency, Type Ia

Recessive Dystrophic Epidermolysis Bullosa

Breast Angiosarcoma,Skin Angiosarcoma,Liver Angiosarcoma,Skin Sarcoma,Lymphangiosarcoma,Breast Sarcoma,Hydrolethalus Syndrome 1,Neuronopathy, Distal Hereditary Motor, Type Viii

Heart Disease,Childhood Acute Lymphocytic Leukemia,Childhood T-Cell Acute Lymphoblastic Leukemia,Myeloid And Lymphoid Neoplasms Associated With Pdgfra Rearrangement,Chronic Neutrophilic Leukemia,Melanoma,Chronic Eosinophilic Leukemia,Leukemia, Chronic Myeloid,B-Lymphoblastic Leukemia/Lymphoma,B-Lymphoblastic Leukemia/Lymphoma With Bcr-Abl1,B-Lymphoblastic Leukemia/Lymphoma With Hypodiploidy,B-Lymphoblastic Leukemia/Lymphoma, Bcr-Abl1-Like,B-Lymphoblastic Leukemia/Lymphoma With Iamp21,Lung Large Cell Carcinoma,Blood Platelet Disease,Essential Thrombocythemia,Myeloproliferative Neoplasm,Testicular Leukemia,Philadelphia-Negative Chronic Myeloid Leukemia,Leukemia,Mixed Phenotype Acute Leukemia,Myelophthisic Anemia,Blood Coagulation Disease,Hypereosinophilic Syndrome,Childhood Leukemia,Leukemia, Acute Myeloid,Bone Marrow Cancer,Myelodysplastic/Myeloproliferative Neoplasm,Hematologic Cancer,Leukemia, Acute Lymphoblastic,Moyamoya Angiopathy,Polycythemia,Leiomyomatosis,Central Nervous System Leukemia,Precursor T-Cell Acute Lymphoblastic Leukemia,Acquired Polycythemia,T-Cell Prolymphocytic Leukemia,Chronic Leukemia,Cockayne Syndrome,Prolymphocytic Leukemia,Lip And Oral Cavity Cancer,Ovarian Cancer,Myeloid Leukemia,T-Cell Acute Lymphoblastic Leukemia,Adult Acute Lymphocytic Leukemia,Breast Cancer,Colorectal Cancer,Congenital Heart Defects And Skeletal Malformations Syndrome,Deficiency Anemia,Leukemia, Acute Lymphoblastic 3,Retinoblastoma,Mental Retardation, Autosomal Dominant 29,Myelodysplastic Syndrome,Mental Retardation, Autosomal Dominant 33,Gastrointestinal Stromal Tumor,Lymphoblastic Leukemia, Acute, With Lymphomatous Features,Wilms Tumor 1,Leukemia, Chronic Lymphocytic,Dermatofibrosarcoma Protuberans,Ataxia-Telangiectasia,B-Cell Adult Acute Lymphocytic Leukemia,Atypical Chronic Myeloid Leukemia,Polycythemia Vera

Bone Disease,Acanthosis Nigricans,Bone Development Disease,Achondroplasia,Physical Disorder,Uterine Carcinosarcoma,Endometrial Cancer,Apert Syndrome,Clear Cell Acanthoma,Autosomal Dominant Polycystic Kidney Disease,Saethre-Chotzen Syndrome,Acanthoma,Squamous Cell Carcinoma,Pfeiffer Syndrome,Lung Cancer Susceptibility 3,Calcinosis,Polycystic Kidney Disease,Pleuropulmonary Blastoma,Acne,Dysostosis,Exophthalmos,Familial Scaphocephaly Syndrome,Exposure Keratitis,Synostosis,Dysgerminoma,Skin Tag,Rasopathy,Deafness, Autosomal Recessive 71,Ectodermal Dysplasia,Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes,Holoprosencephaly,Split Hand-Foot Malformation,Ankylosis,Cervical Keratinizing Squamous Cell Carcinoma,Radioulnar Synostosis,Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate,Plagiocephaly,Syndromic Craniosynostosis,Craniosynostosis,Chronic Inflammation Of Lacrimal Passage,Dacryocystocele,Bile Duct Adenocarcinoma,Esophagus Adenocarcinoma,Nevus, Epidermal,Luteoma,Testicular Spermatocytic Seminoma,Intrahepatic Cholangiocarcinoma,Glioma,Fibrolamellar Carcinoma,Hepatocellular Clear Cell Carcinoma,Cytochrome P450 Oxidoreductase Deficiency,Fgfr Craniosynostosis Syndromes,Bladder Cancer,Pigmentation Disease,Wolffian Duct Adenocarcinoma,Osteoglophonic Dysplasia,Endometrial Adenocarcinoma,Adult Teratoma,Ovarian Cancer,Adenocarcinoma,Eccrine Papillary Adenocarcinoma,Breast Cancer,Glioblastoma,Wells Syndrome,Colorectal Cancer,Hypospadias,Hydrocephalus,Cholesteatoma Of Middle Ear,Scaphocephaly, Maxillary Retrusion, And Mental Retardation,Muenke Syndrome,Syringomyelia,Myxoid Liposarcoma,Van Der Woude Syndrome 1,Cleft Palate, Isolated,Cleidocranial Dysplasia,Gastric Cancer,Prostate Cancer,Disease Of Mental Health,Cholangiocarcinoma,Craniosynostosis 1,Jackson-Weiss Syndrome,Kallmann Syndrome,Crouzon Syndrome,Beare-Stevenson Cutis Gyrata Syndrome,Skin Disease,Gastric Adenocarcinoma,Porokeratosis,Aplasia Of Lacrimal And Salivary Glands,Lung Squamous Cell Carcinoma,Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1,Hydrocephalus, Congenital, 1,Antley-Bixler Syndrome,Split-Hand/Foot Malformation 1,Esophageal Cancer,Hypertelorism, Microtia, Facial Clefting Syndrome,Odontochondrodysplasia,Orofacial Cleft,Strabismus,Hemifacial Hyperplasia,Chromosome 2q35 Duplication Syndrome,Tooth Agenesis,Thanatophoric Dysplasia, Type I,Renal Hypodysplasia/Aplasia 1,Humeroradial Synostosis,Vesicoureteral Reflux 1,Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans,Nasopharyngeal Carcinoma,Bent Bone Dysplasia Syndrome,Hypertelorism,Hypochondroplasia,Estrogen-Receptor Positive Breast Cancer,Carpenter Syndrome 1,Lacrimoauriculodentodigital Syndrome,Scoliosis,Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis,Chromosomal Duplication Syndrome,Lung Cancer,Pancreatic Cancer,Peters-Plus Syndrome,Multiple Pterygium Syndrome, Escobar Variant

Myofibrillar Myopathy,Cockayne Syndrome,Breast Cancer,Xeroderma Pigmentosum, Complementation Group D,Xeroderma Pigmentosum, Variant Type,Xeroderma Pigmentosum, Complementation Group B

Gastric Cardia Carcinoma,Epilepsy,Infantile-Onset Mesial Temporal Lobe Epilepsy With Severe Cognitive Regression,Parkinson Disease, Late-Onset

Coronary Artery Vasospasm,Dextrocardia,Ureteral Obstruction,Breast Cancer,Tongue Squamous Cell Carcinoma,Hypertension, Essential

Myotonic Dystrophy,Epidermolysis Bullosa Simplex, Dowling-Meara Type

Pancreatic Adenocarcinoma,Mesothelioma, Malignant,Skin Melanoma,Familial Renal Papillary Carcinoma,Spinal Chordoma,Follicular Adenoma,Thyroid Gland Cancer,Peritoneal Mesothelioma,Lung Cancer Susceptibility 3,Occipital Lobe Neoplasm,Mucositis,Acral Lentiginous Melanoma,Chondrosarcoma,Chordoma,Chronic Erosive Gastritis,Melanoma,Gastroesophageal Adenocarcinoma,Thyroid Gland Anaplastic Carcinoma,Dedifferentiated Liposarcoma,Myxofibrosarcoma,Tongue Carcinoma,Hereditary Renal Cell Carcinoma,Clear Cell Renal Cell Carcinoma,Hepatoblastoma,Bile Duct Cancer,Tall Cell Variant Papillary Carcinoma,Doxorubicin Induced Cardiomyopathy,Differentiated Thyroid Carcinoma,Malignant Pleural Mesothelioma,Refractive Error,Ependymoblastoma,Neuroblastoma,Inherited Cancer-Predisposing Syndrome,Arthrogryposis, Distal, Type 1a,Glioma,Kidney Cancer,Lung Disease,Ovarian Clear Cell Adenocarcinoma,Hypopharynx Cancer,Ovarian Cancer,Adenocarcinoma,Breast Ductal Carcinoma,Breast Carcinoma In Situ,Breast Cancer,Glioblastoma,Squamous Cell Carcinoma, Head And Neck,High Grade Glioma,Colorectal Cancer,Papillary Carcinoma,Hepatocellular Carcinoma,Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb,Malignant Peripheral Nerve Sheath Tumor,Rhabdomyosarcoma,Biliary Tract Cancer,Gastric Cancer,Prostate Cancer,Papillary Thyroid Microcarcinoma,Cholangiocarcinoma,Microvascular Complications Of Diabetes 1,Lung Benign Neoplasm,Large Cell Medulloblastoma,Thyroid Gland Follicular Carcinoma,Autism 9,Renal Cell Carcinoma, Papillary, 1,Sarcoma, Synovial,Familial Mediterranean Fever, Autosomal Dominant,Barrett Esophagus,Distal Arthrogryposis,Alveolar Soft Part Sarcoma,Tumor Predisposition Syndrome,Vitreoretinopathy, Neovascular Inflammatory,Von Hippel-Lindau Syndrome,Salivary Gland Carcinoma,Cutaneous Telangiectasia And Cancer Syndrome, Familial,Renal Cell Carcinoma, Nonpapillary,Autism Spectrum Disorder,Osteofibrous Dysplasia,Deafness, Autosomal Recessive 97,Inguinal Hernia,Medulloblastoma,Autism,Melanoma, Uveal,Pediatric Hepatocellular Carcinoma,Lung Cancer,Helicobacter Pylori Infection,Pancreatic Cancer

Large Cell Carcinoma,Lung Large Cell Carcinoma,Cerebral Artery Occlusion,Adenocarcinoma,Breast Cancer,Beriberi,Parkinson Disease, Late-Onset,Colorectal Cancer,Thiamine Deficiency Disease,Tumoral Calcinosis, Hyperphosphatemic, Familial, 1,Wet Beriberi

Endometrial Cancer,Liver Carcinoma In Situ,Capillary Malformation-Arteriovenous Malformation 1,Skin Angiosarcoma,Parkes Weber Syndrome,Brain Stem Astrocytic Neoplasm,Hereditary Hemorrhagic Telangiectasia,Lymphatic Malformation 7,Ovarian Cancer,Breast Cancer,Squamous Cell Carcinoma, Head And Neck,Weber Syndrome,Colorectal Cancer,Arteriovenous Malformation,Microvascular Complications Of Diabetes 1,Capillary Malformation-Arteriovenous Malformation 2,Tetralogy Of Fallot,Cardiovascular Organ Benign Neoplasm,Hennekam Syndrome

Skin Melanoma,Squamous Cell Carcinoma,Lung Cancer Susceptibility 3,Cowden Syndrome,Melanoma,Rare Gynecological Tumor,Lung Non-Squamous Non-Small Cell Carcinoma,Cowden Syndrome 1,Cervical Adenoma Malignum,Pulmonary Large Cell Neuroendocrine Carcinoma,B-Lymphoblastic Leukemia/Lymphoma,Large Cell Carcinoma,Pancreatic Intraductal Papillary-Colloid Carcinoma,Inherited Cancer-Predisposing Syndrome,Gynecomastia,Vaginal Tubulovillous Adenoma,Hereditary Mixed Polyposis Syndrome,Hepatocellular Clear Cell Carcinoma,Carney Complex Variant,Intestinal Polyposis Syndrome,Dysplastic Nevus Syndrome,Skin Amelanotic Melanoma,Polyhydramnios,Small Intestine Cancer,Vaginal Adenoma,Testicular Germ Cell Tumor,Long Qt Syndrome,Lip And Oral Cavity Cancer,Ovarian Cancer,Adenocarcinoma,Tuberous Sclerosis 2,Tuberous Sclerosis,Testicular Cancer,Acinar Cell Carcinoma,Breast Cancer,Hereditary Breast Ovarian Cancer Syndrome,Acute Monoblastic Leukemia,Colorectal Cancer,Juvenile Polyposis Syndrome,Peutz-Jeghers Syndrome,Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes,Skin Carcinoma,Cervical Cancer,Lung Benign Neoplasm,Lynch Syndrome,Lung Squamous Cell Carcinoma,Pancreatic Serous Cystadenoma,Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy,Diamond-Blackfan Anemia 20,Gastric Cancer, Hereditary Diffuse,Tumor Predisposition Syndrome,Tuberous Sclerosis 1,Cutaneous Telangiectasia And Cancer Syndrome, Familial,Intussusception,Vaginal Benign Neoplasm,Li-Fraumeni Syndrome,Ataxia-Telangiectasia,Melanoma, Cutaneous Malignant 1,Lung Cancer,Pancreatic Cancer

Indolent Plasma Cell Myeloma,Paronychia,Skin Lipoma,Rheumatoid Arthritis,Lung Cancer

Pneumocystosis,X-Linked Recessive Disease,Lymphopenia,Conjunctivitis,Richter'S Syndrome,Macroglobulinemia,Pyoderma,Cll/Sll,Mast-Cell Leukemia,Polyarticular Juvenile Idiopathic Arthritis,Spherocytosis, Type 5,Ecthyma,B Cell Deficiency,Lung Large Cell Carcinoma,B-Cell Lymphoma,Common Variable Immunodeficiency,Neutropenia,Agammaglobulinemia 1, Autosomal Recessive,Plasma Protein Metabolism Disease,Isolated Agammaglobulinemia,Poliomyelitis,Leukemia, Acute Myeloid,Growth Hormone Deficiency,Leukemia, Acute Lymphoblastic,Agammaglobulinemia,Bacterial Infectious Disease,Breast Cancer,Central Nervous System Hematologic Cancer,Congenital Hypogammaglobulinemia,Immunodeficiency 14,Panniculitis,Immunodeficiency 33,Lymphoma, Non-Hodgkin, Familial,Baylisascariasis,Agammaglobulinemia, X-Linked,Paralytic Poliomyelitis,Immune Deficiency Disease,Myelodysplastic Syndrome,Immunoglobulin A Deficiency 1,Wiskott-Aldrich Syndrome,X-Linked Monogenic Disease,Diffuse Large B-Cell Lymphoma,Mantle Cell Lymphoma,Lymphoplasmacytic Lymphoma,Marginal Zone B-Cell Lymphoma,Splenic Marginal Zone Lymphoma,Williams-Beuren Syndrome,Combined Oxidative Phosphorylation Deficiency 9,Mohr-Tranebjaerg Syndrome,Cd40 Ligand Deficiency,Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia,Immunodeficiency 45,Immunodeficiency With Hyper-Igm, Type 1,Leukemia, Chronic Lymphocytic,Myeloma, Multiple,Isolated Growth Hormone Deficiency,Isolated Growth Hormone Deficiency Type Iii,Waldenstroem'S Macroglobulinemia

Muscular Disease,Heart Disease,Constrictive Pericarditis,Congenital Fiber-Type Disproportion,Mitral Valve Insufficiency,Aortic Valve Disease 2,Congenital Structural Myopathy,Myopathy,Amyloidosis,Cardiomyopathy, Dilated, 1e,Syncope,Myofibrillar Myopathy,Atrial Heart Septal Defect,Mitochondrial Dna Depletion Syndrome 12b,Childhood-Onset Progressive Contractures-Limb-Girdle Weakness-Muscle Dystrophy Syndrome,Emery-Dreifuss Muscular Dystrophy,Cortical Thymoma,Muscle Tissue Disease,Morvan'S Fibrillary Chorea,Neuromuscular Disease,Hypertrophic Cardiomyopathy,Familial Isolated Dilated Cardiomyopathy,Rasopathy,Autosomal Dominant Distal Myopathy,Lung Large Cell Carcinoma,Myopathy, Distal, 1,Myositis,Myotonic Dystrophy 1,Systolic Heart Failure,Myopathy, Myofibrillar, 1,Diastolic Heart Failure,Autosomal Recessive Limb-Girdle Muscular Dystrophy,Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a,Muscular Dystrophy,Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g,Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j,Muscular Atrophy,Tibial Muscular Dystrophy,Limb-Girdle Muscular Dystrophy,Arrhythmogenic Right Ventricular Dysplasia, Familial, 1,Epithelial Malignant Thymoma,Hyaline Body Myopathy,Isolated Elevated Serum Creatine Phosphokinase Levels,Noonan Syndrome 1,Newborn Respiratory Distress Syndrome,Thymus Clear Cell Carcinoma,Reducing Body Myopathy,Myocarditis,Atrial Standstill 1,Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10,Hereditary Proximal Myopathy With Early Respiratory Failure,Dilated Cardiomyopathy,Alcoholic Cardiomyopathy,Lmna-Related Dilated Cardiomyopathy,Thymus Gland Disease,Long Qt Syndrome,Cardiomyopathy, Dilated, 1dd,Heart Conduction Disease,Udd Distal Myopathy - Tibial Muscular Dystrophy,Muscular Dystrophy, Congenital, Lmna-Related,Neuropathy,Perinephritis,Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form,Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form,Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form,Myopathy, Myofibrillar, 3,Sick Sinus Syndrome,Multiminicore Disease,Cardiomyopathy, Familial Hypertrophic, 4,Cardiomyopathy, Dilated, 1a,Congestive Heart Failure,Myopathy, Myofibrillar, 4,Left Ventricular Noncompaction 2,Foot Drop,Myopathy, Myofibrillar, 5,Rhabdomyosarcoma,Rigid Spine Muscular Dystrophy 1,Epidermolysis Bullosa Simplex With Muscular Dystrophy,Thymoma,Thymus Cancer,Dendritic Cell Thymoma,Respiratory Failure,Centronuclear Myopathy,Myopathy, Myofibrillar, 9, With Early Respiratory Failure,Cardiomyopathy, Dilated, 1g,Congenital Myasthenic Syndrome,Cardiomyopathy, Familial Hypertrophic, 9,Cardiomyopathy, Dilated, 1h,Orthostatic Intolerance,Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant,Lung Squamous Cell Carcinoma,Restrictive Cardiomyopathy,Extrinsic Cardiomyopathy,Lambert-Eaton Myasthenic Syndrome,Arrhythmogenic Right Ventricular Cardiomyopathy,Brugada Syndrome,Muscle Hypertrophy,Salih Myopathy,Nonaka Myopathy,Primary Cutaneous Amyloidosis,Distal Arthrogryposis,Familial Atrial Fibrillation,Hypermethioninemia Due To Adenosine Kinase Deficiency,Atrioventricular Block,Third-Degree Atrioventricular Block,Barth Syndrome,Cardioneuromyopathy With Hyaline Masses And Nemaline Rods,Cardiomyopathy, Familial Hypertrophic, 1,Wolff-Parkinson-White Syndrome,Muscular Dystrophy-Dystroglycanopathy , Type C, 5,Intrinsic Cardiomyopathy,Peripartum Cardiomyopathy,Lipoprotein Quantitative Trait Locus,Atrial Fibrillation,Scoliosis,Muscular Dystrophy, Duchenne Type,Myopathy, Centronuclear, X-Linked,Cardiac Arrest,Inguinal Hernia,Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2,Myasthenia Gravis,Left Ventricular Noncompaction,Lethal Congenital Contracture Syndrome,Myopathy, Centronuclear, 2,Batten-Turner Congenital Myopathy,Miyoshi Muscular Dystrophy,Tibial Muscular Dystrophy, Tardive,Cardiomyopathy, Dilated, 1b

Myeloid And Lymphoid Neoplasms Associated With Pdgfra Rearrangement,Chronic Neutrophilic Leukemia,Chronic Myelomonocytic Leukemia,Portal Vein Thrombosis,Polycystic Kidney Disease,Chronic Eosinophilic Leukemia,Leukemia, Chronic Myeloid,Gaucher'S Disease,B-Lymphoblastic Leukemia/Lymphoma, Bcr-Abl1-Like,B-Cell Lymphoma,Acute Erythroid Leukemia,Core Binding Factor Acute Myeloid Leukemia,Hemorrhagic Disease,Blood Platelet Disease,Essential Thrombocythemia,Myeloproliferative Neoplasm,Thrombocytosis,Leptin Deficiency Or Dysfunction,Sm-Ahnmd,Leukemia,Myelophthisic Anemia,Blood Coagulation Disease,Hypereosinophilic Syndrome,Wernicke Encephalopathy,Acquired Von Willebrand Syndrome,Neutrophilia, Hereditary,Acute Leukemia,Central Retinal Vein Occlusion,Thrombophilia,Leukemia, Acute Myeloid,Primary Mediastinal Large B-Cell Lymphoma,Refractory Anemia,Bone Marrow Cancer,Myelodysplastic/Myeloproliferative Neoplasm,Hematologic Cancer,Splenic Infarction,Leukemia, Acute Lymphoblastic,Cebpa-Associated Familial Acute Myeloid Leukemia,Polycythemia,Dilated Cardiomyopathy,Etv6 Thrombocytopenia And Predisposition To Leukemia,Behcet Syndrome,Hepatic Vascular Disease,Antithrombin Iii Deficiency,Splenomegaly,Acquired Polycythemia,Chronic Leukemia,Diamond-Blackfan Anemia,Mixed Lacrimal Gland Cancer,Erythrocytosis, Familial, 8,Vein Disease,Ovarian Cancer,Myeloid Leukemia,Acute Megakaryocytic Leukemia,Crohn'S Disease,Breast Cancer,Colorectal Cancer,Portal Hypertension,Primary Polycythemia,Premature Menopause,Combined Oxidative Phosphorylation Deficiency 16,Benign Essential Hypertension,Deficiency Anemia,Sarcoma,Fibrosarcoma,Systemic Mastocytosis,Prostate Cancer,Disease Of Mental Health,Mastocytosis,Sagittal Sinus Thrombosis,Body Mass Index Quantitative Trait Locus 11,Thrombocytopenia,Renovascular Hypertension,Amegakaryocytic Thrombocytopenia, Congenital,Beta-Thalassemia,Lymphoma, Non-Hodgkin, Familial,Mouth Disease,Lymphoma, Hodgkin, Classic,Erythrocytosis, Familial, 1,Inflammatory Bowel Disease,Severe Congenital Neutropenia,Myelodysplastic Syndrome,Mental Retardation, Autosomal Dominant 33,Down Syndrome,Gastrointestinal Stromal Tumor,Lymphoblastic Leukemia, Acute, With Lymphomatous Features,Thrombocythemia 3,Hypertension, Essential,Ischemic Colitis,Leukemia, Chronic Lymphocytic,Juvenile Myelomonocytic Leukemia,Systemic Lupus Erythematosus,Premature Ovarian Failure 1,Myelofibrosis,Myeloma, Multiple,Medulloblastoma,Atypical Chronic Myeloid Leukemia,Thrombosis,Lung Cancer,Asthma,Budd-Chiari Syndrome,Polycythemia Vera

Kagami-Ogata Syndrome,Alzheimer Disease,Alacrima, Achalasia, And Mental Retardation Syndrome,Mental Retardation, Autosomal Dominant 53,Disease Of Mental Health,Mental Retardation, Autosomal Recessive 63,Attention Deficit-Hyperactivity Disorder,Autosomal Dominant Non-Syndromic Intellectual Disability,Rett Syndrome,Autism

Bone Disease,Endometrial Cancer,Chronic Myelomonocytic Leukemia,Benign Giant Cell Tumor,B-Lymphoblastic Leukemia/Lymphoma With Bcr-Abl1,Alzheimer Disease,Core Binding Factor Acute Myeloid Leukemia,Early-Onset, Autosomal Dominant Alzheimer Disease,Myeloproliferative Neoplasm,Uterine Inversion,Leukemia, Acute Myeloid,Bone Marrow Cancer,Hematologic Cancer,Leukemia, Acute Lymphoblastic,Csf1r-Related Adult-Onset Leukoencephalopathy With Axonal Spheroids And Pigmented Glia,Pigmented Villonodular Synovitis,Myasthenic Syndrome, Congenital, 4c, Associated With Acetylcholine Receptor Deficiency,Malignant Giant Cell Tumor Of The Tendon Sheath,Arthritis,Dementia,Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1,Leukoencephalopathy, Hereditary Diffuse, With Spheroids,Ovarian Cancer,Myeloid Leukemia,Early-Onset Calcifying Leukoencephalopathy-Skeletal Dysplasia,Leukodystrophy,Osteopetrosis,Breast Cancer,Dysosteosclerosis,Tenosynovial Giant Cell Tumor,Deficiency Anemia,Cerebral Degeneration,Sarcoma,Fibrosarcoma Of Bone,Fibrosarcoma,Disease Of Mental Health,Congenital Myasthenic Syndrome,Rheumatoid Arthritis,Myelodysplastic Syndrome,Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis,Autosomal Recessive Disease,Anaplastic Large Cell Lymphoma,Primary Progressive Multiple Sclerosis,Acute Promyelocytic Leukemia,Renal Cell Carcinoma, Nonpapillary,Duodenum Adenoma,Lymphoma,Bone Benign Neoplasm,Connective Tissue Benign Neoplasm,Myasthenic Syndrome, Congenital, 6, Presynaptic,Myelofibrosis,Frontotemporal Dementia,Pyle Disease

Focal Epithelial Hyperplasia,Osteoporosis,Peutz-Jeghers Syndrome,Gaucher Disease, Type Iii,Visual Impairment And Progressive Phthisis Bulbi

Hyperglycemia,Hypertrophic Cardiomyopathy,Glycogen Storage Disease,Phosphorylase Kinase Deficiency,Tuberous Sclerosis,Breast Cancer,Ischemia,Aromatase Deficiency,Peutz-Jeghers Syndrome,Body Mass Index Quantitative Trait Locus 11,Type 2 Diabetes Mellitus,Wolff-Parkinson-White Syndrome

Colorectal Cancer

Parkinson Disease, Late-Onset

Bartter Disease,Arthrogryposis, Distal, Type 3,Hypomagnesemia 4, Renal,Distal Arthrogryposis,Hypomagnesemia 3, Renal

Glycogen Storage Disease Ixa,Glycogen Storage Disease Ixc,Glycogen Storage Disease,Phosphorylase Kinase Deficiency,Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency,Glycogen Storage Disease Ia,Glycogen Storage Disease, Type Ixd,Glycogen Storage Disease Ix,Glycogen Storage Disease Ixb

Inflammatory Bowel Disease 1,T-Cell Lymphoblastic Leukemia/Lymphoma,Crohn'S Disease,Breast Cancer,Gastrointestinal Stromal Tumor

Orofaciodigital Syndrome Vi

Endometrial Cancer,Melanoma,Plasma Cell Neoplasm,Uterine Corpus Cancer,Atypical Teratoid Rhabdoid Tumor,Neuroblastoma,Childhood Malignant Schwannoma,Adult Malignant Schwannoma,Bladder Cancer,Laryngeal Squamous Cell Carcinoma,Tetraploidy,Ovarian Cancer,Prostate Neuroendocrine Neoplasm,Breast Cancer,Colorectal Cancer,Endometrial Serous Adenocarcinoma,Hepatocellular Carcinoma,Rhabdomyosarcoma,Gastric Cancer,Prostate Cancer,Cervical Cancer,Lynch Syndrome,Esophageal Cancer,Donohue Syndrome,Colorectal Adenocarcinoma,Myeloma, Multiple,Medulloblastoma,Primary Autosomal Recessive Microcephaly,Lung Cancer,Pancreatic Cancer

Bartholin'S Gland Adenocarcinoma,Bone Cancer,Polyploidy,Alzheimer Disease,Retinal Cancer,Neuroblastoma,Leukemia, Acute Myeloid,Hereditary Spastic Paraplegia,Leukemia, Acute Lymphoblastic,Bladder Cancer,Brain Cancer,Ovarian Cancer,Breast Cancer,Colorectal Cancer,Hepatocellular Carcinoma,Western Equine Encephalitis,Rhabdomyosarcoma,Fanconi Anemia, Complementation Group A,Neuronal Ceroid Lipofuscinosis,Breast Adenocarcinoma,Prostate Cancer,Cervical Cancer,Retinoblastoma,Lymphoma, Non-Hodgkin, Familial,Esophageal Cancer,Seckel Syndrome,Trichothiodystrophy 5, Nonphotosensitive,Mantle Cell Lymphoma,Gastrointestinal Stromal Tumor,Acute Promyelocytic Leukemia,Leukemia, Chronic Lymphocytic,Ceroid Lipofuscinosis, Neuronal, 2,Bloom Syndrome,Primary Autosomal Recessive Microcephaly,Ceroid Lipofuscinosis, Neuronal, 1,Lung Cancer,Frontotemporal Dementia

Psoriasis,Breast Implant-Associated Anaplastic Large Cell Lymphoma,Endometrial Cancer,Severe Combined Immunodeficiency,Hepatitis C,Covid-19,Blood Platelet Disease,Hepatitis,Leukemia,Blood Coagulation Disease,Wernicke Encephalopathy,Leukemia, Acute Myeloid,Sting-Associated Vasculopathy With Onset In Infancy,Bone Marrow Cancer,Leukemia, Acute Lymphoblastic,Combined Immunodeficiency,Polycythemia,Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Jak1 Deficiency,Crisponi/Cold-Induced Sweating Syndrome 1,Colonic Disease,Acute Megakaryoblastic Leukemia In Down Syndrome,Herpes Zoster,Autoimmune Lymphoproliferative Syndrome,T-Cell Prolymphocytic Leukemia,Mixed Lacrimal Gland Cancer,Prolymphocytic Leukemia,Nasopharyngitis,Ovarian Cancer,T-Cell Acute Lymphoblastic Leukemia,Acute Megakaryocytic Leukemia,Breast Cancer,Colorectal Cancer,Hepatocellular Carcinoma,Jak3-Deficient Severe Combined Immunodeficiency,Fibrosarcoma,Prostate Cancer,Chilblain Lupus 1,Severe Combined Immunodeficiency, X-Linked,Mouth Disease,Immunodeficiency 27b,Immunodeficiency 35,Aicardi-Goutieres Syndrome,Down Syndrome,Acute Promyelocytic Leukemia,Lymphoblastic Leukemia, Acute, With Lymphomatous Features,Leukemia, Acute, X-Linked,Alopecia Universalis Congenita,Autoinflammation, Immune Dysregulation, And Eosinophilia,Systemic Lupus Erythematosus,Myelofibrosis,Lymphoproliferative Syndrome,Immunodeficiency 27a,Pancreatic Cancer,Polycythemia Vera

Breast Papillomatosis,Squamous Cell Carcinoma,Cornelia De Lange Syndrome,Leukemia, Chronic Myeloid,Gonococcal Keratitis,Leukemia, Acute Myeloid,Trichothiodystrophy 1, Photosensitive,Ovarian Cancer,Breast Cancer,Colorectal Cancer,Microcephaly,Rhabdomyosarcoma,Gastric Cancer,Prostate Cancer,Lung Squamous Cell Carcinoma,Lymphoma, Non-Hodgkin, Familial,Dyskeratosis Congenita, Autosomal Dominant 3,Esophageal Cancer,Brain Glioma,Ataxia-Telangiectasia,Medulloblastoma,Primary Autosomal Recessive Microcephaly,Lung Cancer,Pancreatic Cancer

Non-Syndromic X-Linked Intellectual Disability

Polycystic Kidney Disease,Uterine Adnexa Cancer,Cor Triatriatum,Cor Triatriatum Dexter,Amyotrophic Lateral Sclerosis 1,Short-Rib Thoracic Dysplasia 12,Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1,Lateral Sclerosis,Motor Neuron Disease,Nephronophthisis,Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly,Fundus Dystrophy,Kidney Disease,Ellis-Van Creveld Syndrome,Amyotrophic Lateral Sclerosis 24,Polydactyly,Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations,Cranioectodermal Dysplasia,Asphyxiating Thoracic Dystrophy,Weyers Acrofacial Dysostosis,Mohr Syndrome,Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly,Frontotemporal Dementia,Joubert Syndrome 1,Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly

Bartter Disease,Renal Tubular Transport Disease,Pseudohypoaldosteronism,Agenesis Of The Corpus Callosum With Peripheral Neuropathy,Arthrogryposis, Distal, Type 3,Liddle Syndrome 1,Hypomagnesemia 4, Renal,Distal Arthrogryposis,Hypertension, Essential,Syndromic X-Linked Intellectual Disability Siderius Type,Gitelman Syndrome

Colon Squamous Cell Carcinoma

Adult Hepatocellular Carcinoma,Pancreatic Adenocarcinoma,Bone Disease,Bone Development Disease,Achondroplasia,Heart Disease,Fibrous Dysplasia,Endometrial Cancer,Apert Syndrome,Saethre-Chotzen Syndrome,Charge Syndrome,Pfeiffer Syndrome,Lymphoblastic Lymphoma,Myeloid And Lymphoid Neoplasms With Eosinophilia And Abnormalities Of Pdgfra, Pdgfrb, And Fgfr1,Retinitis Pigmentosa,Myeloid And Lymphoid Neoplasms Associated With Pdgfra Rearrangement,Myeloid And Lymphoid Neoplasms Associated With Fgfr1 Abnormalities,Brain Stem Glioma,Ossifying Fibroma,Melanoma,Chronic Eosinophilic Leukemia,Leukemia, Chronic Myeloid,Cleft Lip,Microform Holoprosencephaly,Hypogonadism,Dysostosis,B-Lymphoblastic Leukemia/Lymphoma,Neuroma,Synostosis,Rasopathy,Deafness, Autosomal Recessive 71,Congenital Hypogonadotropic Hypogonadism,Large Cell Carcinoma,Lung Large Cell Carcinoma,Holoprosencephaly,Osteochondroma,Cleft Lip/Palate,Nail Disorder, Nonsyndromic Congenital, 1,Myeloproliferative Neoplasm,Split Hand-Foot Malformation,Hypogonadotropic Hypogonadism,Semilobar Holoprosencephaly,Ankylosis,Radioulnar Synostosis,Cataract 30,Plagiocephaly,Lobar Holoprosencephaly,Leukemia,Syndromic Craniosynostosis,Craniosynostosis,Neuroblastoma,Mixed Phenotype Acute Leukemia,Pilomyxoid Astrocytoma,Pilocytic Astrocytoma,Cryptorchidism, Unilateral Or Bilateral,Hypereosinophilic Syndrome,Nevus, Epidermal,Acute Leukemia,Normosmic Congenital Hypogonadotropic Hypogonadism,Encephalocraniocutaneous Lipomatosis,Schimmelpenning-Feuerstein-Mims Syndrome,Glioma,Leukemia, Acute Myeloid,Phosphorus Metabolism Disease,Hematologic Cancer,Fibrolamellar Carcinoma,Leukemia, Acute Lymphoblastic,Hepatocellular Clear Cell Carcinoma,Chondroblastoma,Rosette-Forming Glioneuronal Tumor,Dysembryoplastic Neuroepithelial Tumor,Fgfr Craniosynostosis Syndromes,Sensorineural Hearing Loss,Choanal Atresia, Posterior,Infertility,Bladder Cancer,Primary Hypereosinophilic Syndrome,Megaesophagus,Osteoglophonic Dysplasia,Synovial Chondromatosis,Adenocarcinoma,Breast Carcinoma In Situ,Breast Cancer,Glioblastoma,Gliosarcoma,Giant Cell Glioblastoma,Colorectal Cancer,Isolated Trigonocephaly,Hepatocellular Carcinoma,8p11 Myeloproliferative Syndrome,Lipomatosis,Oligodendroglioma,Childhood Oligodendroglioma,Spinal Cord Oligodendroglioma,Adult Oligodendroglioma,Rhabdomyosarcoma,Hartsfield Syndrome,Muenke Syndrome,Pseudopterygium,Chromosome 8p11 Myeloproliferative Syndrome,Spotted Fever,Sarcoma,Cleft Palate, Isolated,Cleidocranial Dysplasia,Coloboma Of Macula,Gastric Cancer,Systemic Mastocytosis,Prostate Cancer,Disease Of Mental Health,Mastocytosis,Jackson-Weiss Syndrome,Body Mass Index Quantitative Trait Locus 11,Kallmann Syndrome,Crouzon Syndrome,Gastric Adenocarcinoma,Lung Squamous Cell Carcinoma,Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1,Bladder Urothelial Carcinoma,Holoprosencephaly 1,Septooptic Dysplasia,Hypophosphatemia,Antley-Bixler Syndrome,Esophageal Cancer,Hypertelorism, Microtia, Facial Clefting Syndrome,Odontochondrodysplasia,Orofacial Cleft,Chromosome 2q35 Duplication Syndrome,Tooth Agenesis,Thanatophoric Dysplasia, Type I,Trigonocephaly 1,Renal Hypodysplasia/Aplasia 1,Lymphoblastic Leukemia, Acute, With Lymphomatous Features,Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans,Salivary Gland Carcinoma,Hypochondroplasia,Hypogonadotropic Hypogonadism 7 With Or Without Anosmia,Lymphoma,Hypophosphatemic Rickets, X-Linked Dominant,Hypogonadotropic Hypogonadism 1 With Or Without Anosmia,Hypogonadotropic Hypogonadism 2 With Or Without Anosmia,Lacrimoauriculodentodigital Syndrome,Myelofibrosis,Medulloblastoma,Atypical Chronic Myeloid Leukemia,Neuroblastoma 1,C Syndrome,Tumoral Calcinosis, Hyperphosphatemic, Familial, 1,Lung Cancer,Oculoectodermal Syndrome,Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay,Pancreatic Cancer

Robinow Syndrome, Autosomal Recessive 1,Autosomal Dominant Robinow Syndrome,Basal Cell Nevus Syndrome,Brachydactyly, Type A1,Ror2-Related Robinow Syndrome,Brachydactyly, Type B1,Fallopian Tube Serous Adenocarcinoma,Breast Cancer,Polydactyly,Robinow Syndrome, Autosomal Dominant 1,Brachydactyly,Distal Arthrogryposis,Proximal Symphalangism,Robinow Syndrome,Omodysplasia,Fetal Akinesia Deformation Sequence 1

Ganglioneuroblastoma,Kagami-Ogata Syndrome,Status Epilepticus,Peripheral Nervous System Benign Neoplasm,Autonomic Nervous System Benign Neoplasm,Peripheral Nervous System Neoplasm,Alcohol Dependence,Alzheimer Disease,Major Depressive Disorder,Amyotrophic Lateral Sclerosis 1,Undetermined Early-Onset Epileptic Encephalopathy,Paranoid Schizophrenia,Leptin Deficiency Or Dysfunction,Congenital Mesoblastic Nephroma,Ganglioneuroma,Neuroblastoma,Pilomyxoid Astrocytoma,Pilocytic Astrocytoma,Ganglioglioma,Congenital Fibrosarcoma,Autonomic Nervous System Neoplasm,Obsessive-Compulsive Disorder,Sudden Infant Death Syndrome,Nodular Ganglioneuroblastoma,Malignant Giant Cell Tumor Of The Tendon Sheath,Adenocarcinoma,Neuropathy, Hereditary Sensory And Autonomic, Type Iii,Breast Cancer,Parkinson Disease, Late-Onset,Peripheral Nervous System Disease,Oligodendroglioma,Bipolar Disorder,Temporal Lobe Epilepsy,Developmental And Epileptic Encephalopathy 58,West Syndrome,Disease Of Mental Health,Pediatric Fibrosarcoma,Toxic Encephalopathy,Body Mass Index Quantitative Trait Locus 11,Mental Depression,Olfactory Neuroblastoma,Multiple Sclerosis,Obesity, Hyperphagia, And Developmental Delay,Fragile X Syndrome,Schizophrenia,Asperger Syndrome,Hereditary Sensory Neuropathy,Large Cell Neuroendocrine Carcinoma,Attention Deficit-Hyperactivity Disorder,Wilms Tumor 1,Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome,Anxiety,Medulloblastoma,Autism,Central Hypoventilation Syndrome, Congenital,Christianson Syndrome

Tongue Carcinoma,Neuroblastoma,Leukemia, Acute Myeloid,Sporadic Breast Cancer,Cerebellar Disease,Ovarian Cancer,Breast Cancer,Colorectal Cancer,Microcephaly,Xeroderma Pigmentosum, Variant Type,Fanconi Anemia, Complementation Group A,Retinoblastoma,Esophageal Cancer,Seckel Syndrome,Mantle Cell Lymphoma,Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked,Ovarian Clear Cell Carcinoma,Autosomal Recessive Cerebellar Ataxia,Li-Fraumeni Syndrome,Ataxia-Telangiectasia,Medulloblastoma,Primary Autosomal Recessive Microcephaly,Lung Cancer

Inflammatory Bowel Disease 1,Indeterminate Leprosy,Ulnar Nerve Lesion,Radial Nerve Lesion,Testicular Disease,Crohn'S Disease,Human Granulocytic Anaplasmosis,Lymphoproliferative Syndrome, X-Linked, 2,Inflammatory Bowel Disease,Blau Syndrome,Chromosome 8q21.11 Deletion Syndrome,Leprosy 3

Epilepsy, Familial Temporal Lobe, 2

Spitzoid Melanoma,Megacolon,Skin Melanoma,Ganglioneuroblastoma,Follicular Adenoma,Autonomic Neuropathy,Retinitis Pigmentosa,Thyroid Gland Cancer,Adenoid Cystic Carcinoma,Peripheral Nervous System Benign Neoplasm,Autonomic Nervous System Benign Neoplasm,Leukemia, Chronic Myeloid,Thyroid Gland Anaplastic Carcinoma,Peripheral Nervous System Neoplasm,Alzheimer Disease,Chagas Disease,Tall Cell Variant Papillary Carcinoma,Amyotrophic Lateral Sclerosis 1,Diabetic Neuropathy,Differentiated Thyroid Carcinoma,Capillary Lymphangioma,Congenital Mesoblastic Nephroma,Neuropathy, Hereditary Sensory And Autonomic, Type V,Ganglioneuroma,Neuroblastoma,Multiple Endocrine Neoplasia, Type Iib,Neuroaxonal Dystrophy,Hypertrophic Pyloric Stenosis,Pyloric Stenosis,Leukemia, Acute Myeloid,Sensory Peripheral Neuropathy,Ocular Cicatricial Pemphigoid,Congenital Fibrosarcoma,Autonomic Nervous System Neoplasm,Multiple Mucosal Neuroma,Uterine Corpus Sarcoma,Benign Struma Ovarii,Malignant Giant Cell Tumor Of The Tendon Sheath,Thyroid Carcinoma,Small Intestinal Sarcoma,Uterus Leiomyosarcoma,Ntrk1 Congenital Insensitivity To Pain With Anhidrosis,Femoral Cancer,Ovarian Cancer,Neuropathy,Neuropathy, Hereditary Sensory And Autonomic, Type Iii,Charcot-Marie-Tooth Disease,Cortical Senile Cataract,Breast Cancer,Adrenal Neuroblastoma,Colorectal Cancer,Peripheral Nervous System Disease,Squamous Blepharitis,Sweat Gland Disease,Papillary Carcinoma,Premature Menopause,Oligodendroglioma,Angiokeratoma Circumscriptum,Pheochromocytoma,Multiple Endocrine Neoplasia, Type Iia,Tooth Disease,Neurogenic Arthropathy,Anhidrosis,Mesenchymal Cell Neoplasm,Cone-Rod Dystrophy 2,Prostate Cancer,Disease Of Mental Health,Mastocytosis,Pediatric Fibrosarcoma,Olfactory Neuroblastoma,Thyroid Gland Follicular Carcinoma,Thyroid Gland Medullary Carcinoma,Hereditary Sensory Neuropathy,Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2,Trigeminal Neuralgia,Hirschsprung Disease 1,Attention Deficit-Hyperactivity Disorder,Neuropathy, Hereditary Sensory And Autonomic, Type Viii,Neuropathy, Hereditary Sensory And Autonomic, Type Iia,Glucocorticoid Deficiency 1,Thyroid Carcinoma, Familial Medullary,Medulloblastoma,Insensitivity To Pain, Congenital, With Anhidrosis,Pancreatic Cancer

Ventricular Septal Defect,Learning Disability,Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers,Cohen Syndrome,Specific Learning Disability,Gastroesophageal Reflux,Breast Cancer,Cardiomyopathy, Familial Hypertrophic, 4,Alacrima, Achalasia, And Mental Retardation Syndrome,Disease Of Mental Health,Chromosome 16p13.3 Deletion Syndrome, Proximal,Orthostatic Intolerance,Dyskeratosis Congenita, Autosomal Dominant 3,X-Linked Monogenic Disease,Non-Syndromic X-Linked Intellectual Disability,Coffin-Lowry Syndrome,Hypertelorism,Partington X-Linked Mental Retardation Syndrome,Scoliosis

Cervix Small Cell Carcinoma,Meninges Sarcoma,Breast Cancer,Alport Syndrome,Pulmonary Fibrosis, Idiopathic,Lymphangioleiomyomatosis

Liver Disease,Non-Alcoholic Fatty Liver Disease,Pyriform Sinus Cancer,Fatty Liver Disease,Alzheimer Disease,Glottis Squamous Cell Carcinoma,Partial Third-Nerve Palsy,Neural Tube Defects,Huntington Disease

Septic Myocarditis,Coffin-Lowry Syndrome

Leukemia, Chronic Myeloid,Tinea Favosa,Renal Pelvis Adenocarcinoma,Leukemia, Acute Lymphoblastic,Human Immunodeficiency Virus Type 1,Co-Trimoxazole Allergy,Immune Deficiency Disease

Lymphopenia,Nail Disease,Severe Combined Immunodeficiency,Lymphomatoid Papulosis,Hepatitis C,Hyper Ige Syndrome,Chronic Mucocutaneous Candidiasis,Myeloproliferative Neoplasm,Hepatitis,Mixed Lacrimal Gland Cancer,Crohn'S Disease,Primary Cutaneous Anaplastic Large Cell Lymphoma,Hyper Ige Recurrent Infection Syndrome 1,Fibrosarcoma,Hemophagocytic Lymphohistiocytosis,Cutaneous Lupus Erythematosus,Immunodeficiency 35,Immunodeficiency 31c,Aicardi-Goutieres Syndrome,Bone Squamous Cell Carcinoma,Systemic Lupus Erythematosus,Polycythemia Vera

Pica Disease,Mental Retardation, Autosomal Dominant 57