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

Dilated Cardiomyopathy,Cardiomyopathy, Dilated, 1dd

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

Liver Disease,Endometrial Cancer,Epilepsy,Polycystic Kidney Disease,Diabetes Mellitus,Alzheimer Disease,Major Depressive Disorder,Neuroblastoma,Cervical Non-Keratinizing Squamous Cell Carcinoma,Barbiturate Dependence,Alzheimer Disease 9,Dementia,Fallopian Tube Serous Adenocarcinoma,Breast Cancer,Parkinson Disease, Late-Onset,Colorectal Cancer,Parkinson Disease 1, Autosomal Dominant,Hepatocellular Carcinoma,Bipolar Disorder,Gastric Cancer,Prostate Cancer,Disease Of Mental Health,Type 2 Diabetes Mellitus,Schizophrenia,Ophthalmomyiasis,Familial Adenomatous Polyposis,Severe Congenital Neutropenia,Aneurysmal Bone Cysts,Attention Deficit-Hyperactivity Disorder,Medulloblastoma,Frontotemporal Dementia,Pancreatic Cancer

Papillary Serous Adenocarcinoma,Orofaciodigital Syndrome Vi

Liver Disease,Endometrial Cancer,Lung Cancer Susceptibility 3,Non-Alcoholic Fatty Liver Disease,Hepatitis C,Acantholytic Acanthoma,Leukemia, Chronic Myeloid,Diabetes Mellitus,Non-Alcoholic Steatohepatitis,Fatty Liver Disease,Alzheimer Disease,Epidermolysis Bullosa Simplex,Hepatitis,Colon Adenocarcinoma,Neuroblastoma,Cervical Non-Keratinizing Squamous Cell Carcinoma,Hereditary Spastic Paraplegia,Leukemia, Acute Lymphoblastic,Ovarian Cancer,Burkitt Lymphoma,Breast Cancer,Glioblastoma,Parkinson Disease, Late-Onset,Colorectal Cancer,Hepatocellular Carcinoma,Sarcoma,Fibrosarcoma,Skin Carcinoma,Gastric Cancer,Breast Adenocarcinoma,Prostate Cancer,Disease Of Mental Health,Rheumatoid Arthritis,Type 2 Diabetes Mellitus,Renal Fibrosis,Acute Promyelocytic Leukemia,Huntington Disease,Nasopharyngeal Carcinoma,Cardiomyopathy, Familial Hypertrophic, 25,Neu-Laxova Syndrome 1,Lung Cancer,Pancreatic Cancer

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

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

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

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

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

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

Adult-Onset Still'S Disease

Corneal Endothelial Dystrophy,Neuroblastoma,Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder,Microcephaly,Corneal Dystrophy, Posterior Polymorphous, 1,Spinocerebellar Ataxia 14,Strabismus,White-Sutton Syndrome

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

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

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

Bone Cancer,Noma,Primary Bone Cancer,Dilated Cardiomyopathy,Breast Cancer,Prostate Cancer,Osteogenesis Imperfecta, Type Xviii,Scoliosis, Isolated 1,Scoliosis

Leukemia, Chronic Myeloid,Diabetes Mellitus,Alzheimer Disease,Nephronophthisis,Breast Cancer,Colorectal Cancer,Pheochromocytoma,Skin Carcinoma,Cardiomyopathy, Familial Hypertrophic, 25

Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease

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

Pulmonary Immaturity,Aromatase Excess Syndrome

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

Cryptococcal Meningitis,Diabetes Mellitus,Alzheimer Disease,Amyotrophic Lateral Sclerosis 1,Cataract,Breast Cancer,Parkinson Disease, Late-Onset,Human Immunodeficiency Virus Type 1,Pheochromocytoma,Pertussis,Opioid Abuse,Type 2 Diabetes Mellitus,Lennox-Gastaut Syndrome,Huntington Disease,Pancreatic Cancer

Orofaciodigital Syndrome Vi

Colorectal Cancer

Leukemia, Acute Myeloid,Human Immunodeficiency Virus Type 1,Immune Deficiency Disease,Leukemia, Chronic Lymphocytic,Nut Midline Carcinoma

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