Nephrotic Syndrome,Pseudoainhum,Familial Woolly Hair Syndrome,Succinic Semialdehyde Dehydrogenase Deficiency,Focal Segmental Glomerulosclerosis,Ectodermal Dysplasia 4, Hair/Nail Type,Striate Palmoplantar Keratoderma,Nephrotic Syndrome, Type 16,Palmoplantar Keratoderma And Woolly Hair,Woolly Hair, Autosomal Dominant,Gamma-Amino Butyric Acid Metabolism Disorder,Multiple Pterygium Syndrome, Escobar Variant

T Cell And Nk Cell Immunodeficiency,Immunodeficiency 10,Progressive Familial Heart Block,Familial Episodic Pain Syndrome,Cerebellar Ataxia Type 42,Cerebellar Ataxia Type 41,Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques,Malignant Hypertension,Spinocerebellar Ataxia 14,Spinocerebellar Ataxia 41,Williams-Beuren Syndrome,Hereditary Ataxia,Hypertension, Essential,Mucolipidosis Iv

Huntington Disease,Hypoparathyroidism, X-Linked

Ventricular Septal Defect,Heart Septal Defect,Heart Disease,Richter'S Syndrome,Squamous Cell Carcinoma,Severe Combined Immunodeficiency,Lymphoblastic Lymphoma,Retinitis Pigmentosa,Myeloid And Lymphoid Neoplasms Associated With Fgfr1 Abnormalities,Ossifying Fibroma,Adenoid Cystic Carcinoma,Double Outlet Right Ventricle,Hajdu-Cheney Syndrome,Bone Cancer,Atrial Heart Septal Defect,Invasive Bladder Transitional Cell Carcinoma,Prion Disease,Connective Tissue Disease,Uterine Adnexa Cancer,Kleefstra Syndrome,Tongue Carcinoma,Orofacial Cleft 4,Clear Cell Renal Cell Carcinoma,Aortic Dissection,Alzheimer Disease,Rasopathy,Nodular Regenerative Hyperplasia,Mucoepidermoid Carcinoma,T-Cell Non-Hodgkin Lymphoma,Holoprosencephaly,Plasmablastic Lymphoma,T-Cell Lymphoblastic Leukemia/Lymphoma,Biliary Tract Disease,Infratentorial Cancer,Familial Thoracic Aortic Aneurysm And Aortic Dissection,Leukemia,Colon Adenocarcinoma,Neuroblastoma,Hypoplastic Left Heart Syndrome,Lacrimal Gland Adenoid Cystic Carcinoma,Shone Complex,Acute Leukemia,Intrahepatic Cholangiocarcinoma,Leukemia, Acute Myeloid,Bone Marrow Cancer,Basal Cell Carcinoma,Hematologic Cancer,Hemangioma,Leukemia, Acute Lymphoblastic,Combined Immunodeficiency,Basal Cell Nevus Syndrome,Aortic Disease,Aortic Valve Disease 1,Focal Segmental Glomerulosclerosis,Brain Cancer,Precursor T-Cell Acute Lymphoblastic Leukemia,Lung Adenoma,Oropharynx Cancer,Aplastic Anemia,Ovarian Cancer,T-Cell Acute Lymphoblastic Leukemia,Breast Cancer,Tonsil Cancer,Exudative Vitreoretinopathy 5,Microphthalmia,Malignant Astrocytoma,Adult Liposarcoma,Breast Liposarcoma,Anaplastic Astrocytoma,Colorectal Cancer,Peripheral Nervous System Disease,Hepatocellular Carcinoma,Splenic Diffuse Red Pulp Small B-Cell Lymphoma,Pheochromocytoma,Aneurysm,Hydrocephalus,Tongue Disease,Cerebral Degeneration,Spondylocostal Dysostosis 3, Autosomal Recessive,Alagille Syndrome 1,Skin Carcinoma,Hemophagocytic Lymphohistiocytosis, Familial, 2,Gastric Cancer,Friedreich Ataxia,Prostate Cancer,Disease Of Mental Health,Cervical Cancer,Aortic Aneurysm,Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1,Orofacial Cleft 8,Scalp-Ear-Nipple Syndrome,Lung Squamous Cell Carcinoma,Adenoiditis,Merkel Cell Carcinoma,Lymphoma, Non-Hodgkin, Familial,Mouth Disease,Adams-Oliver Syndrome 5,Loeys-Dietz Syndrome,Hypoplastic Left Heart Syndrome 1,Tetralogy Of Fallot,Myelodysplastic Syndrome,Mantle Cell Lymphoma,Peripheral T-Cell Lymphoma,Heart, Malformation Of,Tongue Squamous Cell Carcinoma,Acute Promyelocytic Leukemia,Bone Squamous Cell Carcinoma,Aortic Aneurysm, Familial Thoracic 1,Endosteal Hyperostosis, Autosomal Dominant,Wilms Tumor 1,Mental Retardation, Autosomal Dominant 40,Lipoprotein Quantitative Trait Locus,Cardiovascular Organ Benign Neoplasm,Brain Glioma,Patent Ductus Arteriosus 1,Adams-Oliver Syndrome,Wilson-Turner X-Linked Mental Retardation Syndrome,Dowling-Degos Disease,Leukemia, Chronic Lymphocytic,Marfan Syndrome,Left Ventricular Noncompaction,Myeloma, Multiple,Medulloblastoma,Lung Cancer,Oliver Syndrome,Pancreatic Cancer

Parastremmatic Dwarfism,Hermansky-Pudlak Syndrome,Pontiac Fever

Viral Infectious Disease,Myalgic Encephalomyelitis/Chronic Fatigue Syndrome,Rasopathy,Dengue Disease,Prostate Cancer, Hereditary, 1,West Nile Encephalitis,West Nile Fever,Noonan Syndrome 1,Chronic Fatigue Syndrome,Herpes Simplex,West Nile Virus Infection,Vaccinia,Prostate Cancer,Lynch Syndrome,La Crosse Encephalitis,Noonan Syndrome 2,Paralytic Poliomyelitis,Aicardi-Goutieres Syndrome,Immune Deficiency Disease,Microphthalmia With Limb Anomalies

Autosomal Dominant Polycystic Kidney Disease,Amyotrophic Lateral Sclerosis 1,Leukemia, Acute Lymphoblastic,Cataract,Liver Cirrhosis,Hepatic Encephalopathy,Spastic Ataxia-Dysarthria Due To Glutaminase Deficiency,Contractural Arachnodactyly, Congenital,Schizophrenia,Developmental And Epileptic Encephalopathy 71,Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development,Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine,Distal Arthrogryposis,Autosomal Recessive Disease,Tracheoesophageal Fistula With Or Without Esophageal Atresia,Metabolic Acidosis

Kleefstra Syndrome,Deafness, Autosomal Dominant 47,Hypoplastic Left Heart Syndrome,Polymicrogyria,Kleefstra Syndrome Due To A Point Mutation,Pontocerebellar Hypoplasia, Type 2a,Weaver Syndrome,Sotos Syndrome 1,Alacrima, Achalasia, And Mental Retardation Syndrome,Disease Of Mental Health,Kleefstra Syndrome 1,Chromosome 16p13.3 Deletion Syndrome, Proximal,Pitt-Hopkins Syndrome,Schizophrenia,Ogden Syndrome,Autism Spectrum Disorder,Kabuki Syndrome 1,Autosomal Dominant Non-Syndromic Intellectual Disability,Chromosomal Deletion Syndrome,Autism,Christianson Syndrome

Vascular Disease,Stomach Carcinoma In Situ,Bone Cancer,Leukemia, Chronic Myeloid,Diabetes Mellitus,Hepatitis B,Mycobacterium Malmoense,Ectodermal Dysplasia,B-Cell Lymphoma,Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis,T-Cell Lymphoblastic Leukemia/Lymphoma,Carbuncle,Shigellosis,Periostitis,Hypohidrotic Ectodermal Dysplasia With Immunodeficiency,Newcastle Disease,Legionellosis,Ovarian Cancer,Burkitt Lymphoma,T-Cell Acute Lymphoblastic Leukemia,Crohn'S Disease,Squamous Cell Carcinoma, Head And Neck,Malignant Astrocytoma,Gliosarcoma,Giant Cell Glioblastoma,Parkinson Disease, Late-Onset,Colorectal Cancer,Ectodermal Dysplasia 10b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive,Hepatocellular Carcinoma,Human Immunodeficiency Virus Type 1,Tropical Spastic Paraparesis,Chromosome 14q11-Q22 Deletion Syndrome,Cardiomyopathy, Dilated, 1gg,Breast Adenocarcinoma,Cone-Rod Dystrophy 2,Prostate Cancer,Disease Of Mental Health,Rheumatoid Arthritis,Adult T-Cell Leukemia,Inflammatory Bowel Disease,Immune Deficiency Disease,Myelodysplastic Syndrome,Intellectual Developmental Disorder, X-Linked 108,Ectodermal Dysplasia And Immunodeficiency 2,Mantle Cell Lymphoma,Nasopharyngeal Carcinoma,Psoriatic Arthritis,Leukemia, Chronic Lymphocytic,Systemic Lupus Erythematosus,Myeloma, Multiple,Lung Cancer,Helicobacter Pylori Infection,Asthma,Pancreatic Cancer

Lacrimal Duct Obstruction

Dentin Sensitivity,Inflammatory Bowel Disease 28,Familial Episodic Pain Syndrome,Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques,Dilated Cardiomyopathy,Facial Dermatosis,Scapuloperoneal Spinal Muscular Atrophy,Brachyolmia

Immunodeficiency 10,B Cell Deficiency,Ectodermal Dysplasia,B-Cell Non-Hodgkin Lymphoma,B-Cell Lymphoma,Common Variable Immunodeficiency,Asbestos-Related Lung Carcinoma,Combined Immunodeficiency,Legionellosis,Osteopetrosis,Neuroaspergillosis,Immunodeficiency, Common Variable, 10,Splenic Marginal Zone Lymphoma,Lymphoma,Acth Deficiency, Isolated,Incontinentia Pigmenti,Immunodeficiency, Common Variable, 1

Metatropic Dysplasia,Pseudohypoaldosteronism,Hypervitaminosis D,Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques,Pendred Syndrome,Hyperparathyroidism,Bone Mineral Density Quantitative Trait Locus 15,Aromatase Deficiency,Prostate Cancer,Hyperparathyroidism, Transient Neonatal,Scapuloperoneal Spinal Muscular Atrophy,Hyperparathyroidism, Neonatal Severe,Spondyloepiphyseal Dysplasia, Maroteaux Type,Spondylometaphyseal Dysplasia, Kozlowski Type,Brachyolmia,Autosomal Recessive Disease,Estrogen-Receptor Negative Breast Cancer,Mucolipidosis Iv

Migraine With Or Without Aura 1,Hereditary Elliptocytosis,Glutamate-Cysteine Ligase Deficiency,Familial Episodic Pain Syndrome,8p11.2 Deletion Syndrome,Hereditary Spherocytosis,Ehrlichiosis,Facial Dermatosis,Hemolytic Anemia,Congenital Hemolytic Anemia,Developmental And Epileptic Encephalopathy 5,Myopathy, Distal, 3,Disease Of Mental Health,Kallmann Syndrome,Malaria,Spherocytosis, Type 1,Brugada Syndrome,Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema,Spinocerebellar Ataxia 5

Metanephric Adenoma,Chromosome 9p Deletion Syndrome,Nephrotic Syndrome,Cerebral Palsy,Inherited Congenital Spastic Tetraplegia,Cerebral Palsy, Spastic Quadriplegic, 2,Myeloproliferative Neoplasm,Quadriplegia,Renal Adenoma,Tukel Syndrome,Spastic Quadriplegia,Spastic Cerebral Palsy,Brain Glioma,Autosomal Dominant Non-Syndromic Intellectual Disability

Severe Combined Immunodeficiency,Tibial Neuropathy,Tarsal Tunnel Syndrome,Combined Immunodeficiency,Discharging Ear,Purine Nucleoside Phosphorylase Deficiency,Alcoholic Gastritis,Acquired Thrombocytopenia,Omenn Syndrome,Retinitis Pigmentosa 48,Bare Lymphocyte Syndrome, Type I,Immune Deficiency Disease,Bare Lymphocyte Syndrome, Type Ii,Tumoral Calcinosis, Hyperphosphatemic, Familial, 1,Bjornstad Syndrome

Polycystic Kidney Disease,Thyroid Gland Anaplastic Carcinoma,Hypertrophic Cardiomyopathy,Dilated Cardiomyopathy,Hypermobile Ehlers-Danlos Syndrome,Focal Segmental Glomerulosclerosis,Brain Cancer,Ovarian Cancer,Colorectal Cancer,Prostate Cancer,Hyperphosphatemia,Exudative Vitreoretinopathy,Renal Fibrosis,Lung Cancer,Pancreatic Cancer

Plasma Cell Neoplasm,Retinal Cancer,Parathyroid Adenoma,Leukemia, Acute Lymphoblastic,Ovarian Cancer,Breast Cancer,Multiple Endocrine Neoplasia,Oligodendroglioma,Pheochromocytoma,Retinoblastoma,Chromophobe Adenoma,Multiple Endocrine Neoplasia, Type Iv,Lymphoma, Non-Hodgkin, Familial,Multiple Endocrine Neoplasia, Type I,Meningioma, Familial,Lymphoma,Myeloma, Multiple,Medulloblastoma,Melanoma, Cutaneous Malignant 1,Lung Cancer

Uterine Corpus Endometrial Carcinoma

Cornelia De Lange Syndrome,Lung Acinar Adenocarcinoma,Amyotrophic Lateral Sclerosis 1,Arthrogryposis, Renal Dysfunction, And Cholestasis 2,Cherubism,Meningioma, Familial,Arthrogryposis, Renal Dysfunction, And Cholestasis 1

Donnai-Barrow Syndrome,Three M Syndrome 1,Branchiooculofacial Syndrome

Dedifferentiated Liposarcoma,Hepatocellular Carcinoma,Retinoblastoma

Timothy Syndrome,Heart Disease,Hypertrophic Cardiomyopathy,Familial Long Qt Syndrome,Legionnaire Disease,Long Qt Syndrome 12,Dilated Cardiomyopathy,Jervell And Lange-Nielsen Syndrome 1,Hereditary Spherocytosis,Long Qt Syndrome,Heart Conduction Disease,Progressive Familial Heart Block, Type Ia,Sick Sinus Syndrome,Andersen Cardiodysrhythmic Periodic Paralysis,Cardiac Arrhythmia,Developmental And Epileptic Encephalopathy 5,Long Qt Syndrome 13,Disease Of Mental Health,Long Qt Syndrome 3,Long Qt Syndrome 2,Long Qt Syndrome 6,Long Qt Syndrome 5,Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy,Arrhythmogenic Right Ventricular Cardiomyopathy,Brugada Syndrome,Long Qt Syndrome 9,Long Qt Syndrome 10,Long Qt Syndrome 11,Coffin-Siris Syndrome 1,Brugada Syndrome 3,Familial Atrial Fibrillation,Sinoatrial Node Disease,Long Qt Syndrome 1,Intrinsic Cardiomyopathy,Autism Spectrum Disorder,Atrial Fibrillation,Cardiac Arrest,Autism,Catecholaminergic Polymorphic Ventricular Tachycardia,Spinocerebellar Ataxia 5,Cardiac Arrhythmia, Ankyrin-B-Related

Familial Isolated Hypoparathyroidism,Arthrogryposis, Renal Dysfunction, And Cholestasis 2,Cherubism,Arthrogryposis, Renal Dysfunction, And Cholestasis 1

B-Cell Lymphoma,Leukemia,Lymphoma, Non-Hodgkin, Familial,Lymphoma,Leukemia, Chronic Lymphocytic

Tethered Spinal Cord Syndrome

Basal Cell Carcinoma,Dilated Cardiomyopathy,Noonan Syndrome With Multiple Lentigines

Nephrotic Syndrome,T Cell And Nk Cell Immunodeficiency,Progressive Familial Heart Block,End Stage Renal Disease,Hypertrophic Pyloric Stenosis,Pyloric Stenosis,Genetic Steroid-Resistant Nephrotic Syndrome,Glutamate-Cysteine Ligase Deficiency,Familial Episodic Pain Syndrome,Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques,Familial Nephrotic Syndrome,Focal Segmental Glomerulosclerosis,Kidney Disease,Malignant Hypertension,Lipoid Nephrosis,Alport Syndrome,Focal Segmental Glomerulosclerosis 1,Pulmonary Hypertension,Focal Segmental Glomerulosclerosis 2,Hypothalamic Neoplasm,Diencephalic Neoplasm,Frasier Syndrome,Denys-Drash Syndrome,Hypertension, Essential,Membranous Nephropathy,Mucolipidosis Iv