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

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

Niemann-Pick Disease, Type C1

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

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

Cerebellar Hypoplasia,Supranuclear Palsy, Progressive, 1,Polycystic Kidney Disease,Dyslexia,Alzheimer Disease,Amyotrophic Lateral Sclerosis 1,Transient Cerebral Ischemia,Giant Axonal Neuropathy 2,Motor Neuron Disease,Neuroblastoma,Hereditary Spastic Paraplegia,Nephronophthisis,Alzheimer Disease 9,Scrapie,Parkinson Disease, Late-Onset,Lissencephaly With Cerebellar Hypoplasia,Pick Disease Of Brain,Ischemia,Developmental And Epileptic Encephalopathy 5,Disease Of Mental Health,Toxic Encephalopathy,Dementia, Lewy Body,Lissencephaly,Aneurysmal Bone Cysts,Lissencephaly 7 With Cerebellar Hypoplasia,Syndromic Intellectual Disability,Non-Syndromic Intellectual Disability,Multiple System Atrophy 1,Myasthenic Syndrome, Congenital, 19,Primary Autosomal Recessive Microcephaly,C Syndrome,Lung Cancer

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

Myotonic Dystrophy,Epidermolysis Bullosa Simplex, Dowling-Meara Type

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

Colorectal Cancer

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

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

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

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

Dilated Cardiomyopathy,Cardiomyopathy, Dilated, 1dd

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

Squamous Cell Carcinoma,Cerebral Hemisphere Lipoma,Corpus Callosum Lipoma,Adenoid Cystic Carcinoma,Cowden Syndrome,Cervical Adenoma Malignum,Leiomyosarcoma,Bilateral Breast Cancer,B-Lymphoblastic Leukemia/Lymphoma,Diffuse Midline Glioma, H3 K27m-Mutant,Essential Thrombocythemia,Congenital Heart Defects, Multiple Types, 3,Familial Colorectal Cancer,Leukemia,Inherited Cancer-Predisposing Syndrome,Wilms Tumor 5,Leukemia, Acute Myeloid,Sporadic Breast Cancer,Li-Fraumeni Syndrome 1,Telangiectasis,Basal Cell Carcinoma,Lung Leiomyosarcoma,Prostate Leiomyosarcoma,Cerebellar Disease,Bile Duct Cystadenoma,T-Cell Prolymphocytic Leukemia,Nk-Cell Enteropathy,Ovarian Cancer,Breast Cancer,Hereditary Breast Ovarian Cancer Syndrome,Colorectal Cancer,Li-Fraumeni Syndrome 2,Premature Menopause,Rhabdomyosarcoma,Xeroderma Pigmentosum, Variant Type,Sarcoma,Fanconi Anemia, Complementation Group A,Bone Osteosarcoma,Skin Carcinoma,Gastric Cancer,Breast Adenocarcinoma,Prostate Cancer,Thrombocytopenia,Lynch Syndrome,Esophageal Cancer,Seckel Syndrome,Myelodysplastic Syndrome,Gastric Cancer, Hereditary Diffuse,Tumor Predisposition Syndrome,Cutaneous Telangiectasia And Cancer Syndrome, Familial,Wilms Tumor 1,Autosomal Recessive Cerebellar Ataxia,Lymphoma,Nijmegen Breakage Syndrome,Colitis,Li-Fraumeni Syndrome,Premature Ovarian Failure 1,Ataxia-Telangiectasia,Melanoma, Cutaneous Malignant 1,Lung Cancer,Osteogenic Sarcoma

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

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

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

Muscular Disease,Fuchs' Endothelial Dystrophy,Myopathy,Muscle Tissue Disease,Neuromuscular Disease,Hypertrophic Cardiomyopathy,Myotonic Disease,Myotonic Dystrophy 1,Muscular Dystrophy,Myotonic Dystrophy,Spinocerebellar Ataxia 8,Myotonic Cataract,Cataract,Oculopharyngeal Muscular Dystrophy,Hair Follicle Neoplasm,Myotonic Dystrophy 2,Myotonia,Immature Cataract,Lens Disease,Autosomal Dominant Cerebellar Ataxia,Disease Of Mental Health,Fragile X Syndrome,Huntington Disease-Like 2,First-Degree Atrioventricular Block,Fragile X-Associated Tremor/Ataxia Syndrome,X-Linked Hereditary Ataxia,Spinal And Bulbar Muscular Atrophy, X-Linked 1,Catecholaminergic Polymorphic Ventricular Tachycardia,Frontotemporal Dementia,3-Methylglutaconic Aciduria, Type Iii

Orofaciodigital Syndrome Vi

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

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

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

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

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

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

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

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

Epilepsy, Familial Temporal Lobe, 2

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

Myopathy,Impotence,Connective Tissue Disease,Diabetes Mellitus,Aortic Dissection,Alzheimer Disease,Familial Thoracic Aortic Aneurysm And Aortic Dissection,Cystic Fibrosis,Aortic Disease,Aortic Valve Disease 1,Heritable Thoracic Aortic Disease,Hemolytic Anemia,Non-Proliferative Fibrocystic Change Of The Breast,Aneurysm,Aortic Aneurysm, Familial Thoracic 8,Disease Of Mental Health,Pulmonary Hypertension,Body Mass Index Quantitative Trait Locus 11,Aortic Aneurysm,Loeys-Dietz Syndrome,Immune Deficiency Disease,Myelodysplastic Syndrome,Attention Deficit-Hyperactivity Disorder,Aortic Aneurysm, Familial Thoracic 1,Hypertension, Essential,Sexual Disorder

Papillary Serous Adenocarcinoma,Orofaciodigital Syndrome Vi

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

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

Coronary Artery Vasospasm,Ocular Hyperemia,Breast Cancer,Pediatric Osteosarcoma,Hutchinson-Gilford Progeria Syndrome,Tetralogy Of Fallot,Hypertension, Essential,Lung Cancer

Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease

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

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

Endometrial Cancer,Noonan Syndrome 1,Esophageal Adenosquamous Carcinoma,Prostate Cancer,Tuberous Sclerosis 1,Lung Cancer

Adult-Onset Still'S Disease