Homozygous Familial Hypercholesterolemia,Sea-Blue Histiocyte Disease,Sitosterolemia,Arcus Corneae,Leber Plus Disease,Cholestasis, Progressive Familial Intrahepatic, 2,Cholelithiasis,Aortic Atherosclerosis,Cholestasis, Progressive Familial Intrahepatic, 3,Familial Hypercholesterolemia,Hypolipoproteinemia,Hemolytic Anemia,Thrombocytopenia,Type 2 Diabetes Mellitus,Gallbladder Disease 4,Cholestasis, Benign Recurrent Intrahepatic, 1,Sitosterolemia 2,Gallbladder Disease,Tangier Disease,Sitosterolemia 1,Progressive Familial Intrahepatic Cholestasis,Cholestasis, Progressive Familial Intrahepatic, 1

Autoimmune Pancreatitis,Bile Acid Synthesis Defect, Congenital, 5,Abcd Syndrome

Lysosomal And Lipase Deficiency,Short-Rib Thoracic Dysplasia 15 With Polydactyly,Homozygous Familial Hypercholesterolemia,Biliary Tract Disease,Sitosterolemia,Arcus Corneae,Leber Plus Disease,Atherosclerosis Susceptibility,Cholestasis, Progressive Familial Intrahepatic, 2,Cholelithiasis,Aortic Atherosclerosis,Cholestasis, Progressive Familial Intrahepatic, 3,Familial Hypercholesterolemia,Hypolipoproteinemia,Thrombocytopenia,Type 2 Diabetes Mellitus,Cholestasis, Benign Recurrent Intrahepatic, 2,Gallbladder Disease 4,Cholestasis, Benign Recurrent Intrahepatic, 1,Sitosterolemia 2,Hyperlipoproteinemia, Type Iv,Gallbladder Disease,Tangier Disease,Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly,Sitosterolemia 1,Progressive Familial Intrahepatic Cholestasis,Cholestasis, Progressive Familial Intrahepatic, 1,Niemann-Pick Disease, Type C1

Nystagmus 7, Congenital, Autosomal Dominant,Coloboma Of Eye Lens,Nystagmus 3, Congenital, Autosomal Dominant,Nystagmus 2, Congenital, Autosomal Dominant,Colobomatous Microphthalmia,Coloboma Of Eyelid,Pigmentation Disease,Blood Group, Langereis System,Porphyria,Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak,Microphthalmia,Aminoaciduria,Dyschromatosis Universalis Hereditaria 3,Spastic Quadriplegia,Coloboma, Ocular, Autosomal Dominant,Coloboma Of Macula,Coloboma Of Optic Nerve,Adrenoleukodystrophy,Protoporphyria, Erythropoietic, 1,Dyschromatosis Symmetrica Hereditaria,Nystagmus 5, Congenital, X-Linked,Osteopetrosis, Autosomal Recessive 4,Osteopetrosis, Autosomal Recessive 6,Osteopetrosis, Autosomal Recessive 7,Microphthalmia, Isolated, With Coloboma 7,Nystagmus 4, Congenital, Autosomal Dominant,Dyschromatosis Universalis Hereditaria,Abcd Syndrome,Osteopetrosis, Autosomal Recessive 5

Dysgraphia,Stereotypic Movement Disorder,Developmental Coordination Disorder,Disease Of Mental Health,Protoporphyria, Erythropoietic, 1,Anemia, Sideroblastic, 1,Writing Disorder,Abcd Syndrome

Tick Infestation,Anemia, Sideroblastic, And Spinocerebellar Ataxia,Abcd Syndrome

Stomach Carcinoma In Situ,Epilepsy,Hyperuricemia,Placental Choriocarcinoma,Gestational Choriocarcinoma,Ocular Cancer,Core Binding Factor Acute Myeloid Leukemia,Nail Disorder, Nonsyndromic Congenital, 1,Sitosterolemia,Erythroplakia,Acute Leukemia,Leukemia, Acute Myeloid,Leukemia, Acute Lymphoblastic,Persistent Fetal Circulation Syndrome,Bilirubin Metabolic Disorder,Gout,Brain Cancer,Diarrhea,Ovarian Cancer,Adult Acute Lymphocytic Leukemia,Breast Cancer,Colorectal Cancer,Hepatocellular Carcinoma,Polyneuropathy Due To Drug,Rhabdomyosarcoma,Gastric Cancer,Breast Adenocarcinoma,Prostate Cancer,Choriocarcinoma,Toxic Encephalopathy,Thrombocytopenia,Multiple Sclerosis,Esophageal Cancer,Uric Acid Concentration, Serum, Quantitative Trait Locus 1,Blood Group, Junior System,Renal Cell Carcinoma, Nonpapillary,Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension,Medulloblastoma,Hyperekplexia,Childhood Acute Myeloid Leukemia,Lung Cancer,Pancreatic Cancer

Retinitis Pigmentosa,Connective Tissue Disease,Acquired Pseudoxanthoma Elasticum,Bilirubin Metabolic Disorder,Eye Disease,Retinal Disease,Familial Hypercholesterolemia,Cutis Laxa,Pseudoxanthoma Elasticum, Forme Fruste,Cutis Laxa, Autosomal Dominant 1,Tumoral Calcinosis, Normophosphatemic, Familial,Episodic Kinesigenic Dyskinesia 1,Elastosis Perforans Serpiginosa,Dubin-Johnson Syndrome,Ichthyosis, Congenital, Autosomal Recessive 4b,Arterial Calcification Of Infancy,Arterial Calcification, Generalized, Of Infancy, 2,Angioid Streaks,Autosomal Recessive Congenital Ichthyosis,Calcification Of Joints And Arteries,Pseudoxanthoma Elasticum

Heart Disease,Chediak-Higashi Syndrome,Vascular Disease,Familial Hyperlipidemia,Inherited Metabolic Disorder,Diabetes Mellitus,Myopia,Ichthyosis, Congenital, Autosomal Recessive 4a,Cerebrovascular Disease,Homozygous Familial Hypercholesterolemia,Alzheimer Disease,Myocardial Infarction,Pulmonary Alveolar Proteinosis,Stroke, Ischemic,Primary Biliary Cholangitis,Sitosterolemia,Smith-Lemli-Opitz Syndrome,Hypoalphalipoproteinemia,Atherosclerosis Susceptibility,Cardiovascular System Disease,Coronary Heart Disease 5,Splenomegaly,Aortic Atherosclerosis,Xanthomatosis,Colorectal Cancer,Open-Angle Glaucoma,Familial Hypercholesterolemia,Hypolipoproteinemia,Lipid Metabolism Disorder,Stargardt Disease,Lysosomal Acid Lipase Deficiency,Macular Degeneration, Age-Related, 1,Huntington Disease-Like 1,Niemann-Pick Disease,Disease Of Mental Health,Body Mass Index Quantitative Trait Locus 11,Hypoalphalipoproteinemia, Primary, 1,Type 2 Diabetes Mellitus,Malaria,Fetal Akinesia Deformation Sequence 4,Ichthyosis, Congenital, Autosomal Recessive 4b,Hypoalphalipoproteinemia, Primary, 2,Glaucoma, Primary Open Angle,Hypertension, Essential,Lipoprotein Quantitative Trait Locus,Tangier Disease,Autosomal Recessive Congenital Ichthyosis,C Syndrome,Niemann-Pick Disease, Type C1,Scott Syndrome

Megacolon,Pulmonary Edema,Bronchitis,Biliary Dyskinesia,Autosomal Dominant Polycystic Kidney Disease,Intestinal Pseudo-Obstruction,Retinitis Pigmentosa,Acrokeratoderma, Hereditary Papulotranslucent,Polycystic Kidney Disease,Urea Cycle Disorder,Bronchial Disease,Diabetes Mellitus,Protein-Energy Malnutrition,Cholangitis,Spermatocele,Bartter Disease,Mycobacterium Abscessus,Pseudohypoaldosteronism,Primary Ciliary Dyskinesia,Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation,Bronchiectasis,Nontuberculous Mycobacterial Lung Disease,Ciliary Dyskinesia, Primary, 19,Primary Biliary Cholangitis,Male Infertility,Muscular Dystrophy,Plasma Protein Metabolism Disease,Cryptorchidism, Unilateral Or Bilateral,Mite Infestation,Cystic Fibrosis,Alcoholic Pancreatitis,Pancreatitis,Intestinal Obstruction,Ileus,Cystic Fibrosis And Congenital Absence Of The Vas Deferens,Idiopathic Bronchiectasis,Infertility,Bilirubin Metabolic Disorder,Lung Disease,Allergic Bronchopulmonary Aspergillosis,Tay-Sachs Disease,Prss1-Related Hereditary Pancreatitis,Diarrhea,Typhoid Fever,Exocrine Pancreatic Insufficiency,Acute Pancreatitis,Osteoporosis,Pneumonia,Bacterial Infectious Disease,Common Cold,Cystic Kidney Disease,Kidney Disease,Duodenal Atresia,Paranasal Sinus Disease,Pancreatitis, Hereditary,Miliaria,Portal Hypertension,Aquagenic Syringeal Acrokeratoderma,Vas Deferens, Congenital Bilateral Aplasia Of,Azoospermia,Oligospermia,Sclerosing Cholangitis,Alpha-1-Antitrypsin Deficiency,Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease,Miliaria Rubra,Respiratory Failure,Mammary Paget'S Disease,Cholera,Pelvic Organ Prolapse,Disease Of Mental Health,Liddle Syndrome 1,Cholangitis, Primary Sclerosing,Diabetes Insipidus, Nephrogenic, Autosomal,Type 2 Diabetes Mellitus,Autoimmune Pancreatitis,Hemochromatosis, Type 1,Disease By Infectious Agent,Secretory Diarrhea,Kartagener Syndrome,Aspergillosis,Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked,Cholestasis, Benign Recurrent Intrahepatic, 1,X-Linked Monogenic Disease,Autosomal Recessive Disease,Autosomal Genetic Disease,Polycystic Liver Disease,Renal Hypodysplasia/Aplasia 1,Chylomicron Retention Disease,Pulmonary Disease, Chronic Obstructive,Meconium Ileus,Intussusception,Specific Language Impairment,Gallbladder Disease,Diarrhea 8, Secretory Sodium, Congenital,Progressive Familial Intrahepatic Cholestasis,Bronchiectasis With Or Without Elevated Sweat Chloride 1,Asthma,Pancreatic Cancer,Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease,Pseudoxanthoma Elasticum

Childhood Acute Lymphocytic Leukemia,Lung Cancer Susceptibility 3,Microsporidiosis,Leukemia, Chronic Myeloid,Temporal Lobe Neoplasm,Colon Adenocarcinoma,Cholangiolocellular Carcinoma,Neuroblastoma,Intraocular Lymphoma,Acute Leukemia,Leukemia, Acute Myeloid,Cystic Fibrosis,Familial Episodic Pain Syndrome,Hematologic Cancer,Leukemia, Acute Lymphoblastic,Bilirubin Metabolic Disorder,Cervix Carcinoma,Ovarian Cancer,Uterine Sarcoma,Breast Cancer,Extrahepatic Cholestasis,Colorectal Cancer,Hepatocellular Carcinoma,Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna,Rhabdomyosarcoma,Gastric Cancer,Dubin-Johnson Syndrome,Acute Promyelocytic Leukemia,Renal Cell Carcinoma, Nonpapillary,Nasopharyngeal Carcinoma,Wilms Tumor 1,Deafness, Autosomal Dominant 77,Lung Cancer,Osteogenic Sarcoma,Asthma,Pseudoxanthoma Elasticum

Diabetes Mellitus,Posterior Uveal Melanoma,Spondylitis,Alveolar Echinococcosis,Spondyloarthropathy 1,Cystic Fibrosis,Recurrent Respiratory Papillomatosis,Autoimmune Disease,Idiopathic Bronchiectasis,Type 1 Diabetes Mellitus,Herpes Simplex,Immunodeficiency By Defective Expression Of Mhc Class I,Bare Lymphocyte Syndrome, Type I,Dyschromatosis Universalis Hereditaria,Lung Cancer

Diabetes Mellitus,Posterior Uveal Melanoma,Spondylitis,Alveolar Echinococcosis,Spondyloarthropathy 1,Idiopathic Bronchiectasis,Type 1 Diabetes Mellitus,Herpes Simplex,Immunodeficiency By Defective Expression Of Mhc Class I,Cystic Echinococcosis,Echinococcosis,Bare Lymphocyte Syndrome, Type I,Abcd Syndrome