Select item 854172 Glycogen storage disease IXa1 GSD VIII Glycogen storage disease 8 Glycogenosis type 8 Hepatic phosphorylase kinase deficiency LIVER GLYCOGENOSIS, X-LINKED, TYPE I PHKA2-Related Phosphorylase Kinase Deficiency Phosphorylase kinase deficiency of liver X-linked Liver Glycogenosis Type 1 X-linked Liver Glycogenosis Type 2 Select item 41523 Type 2 diabetes mellitus DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST Diabetes mellitus, noninsulin-dependent, late onset KCNJ11-Related Susceptibility to Noninsulin-Dependent Diabetes Mellitus Type II diabetes mellitus Select item 82799 Familial visceral amyloidosis, Ostertag type AMYLOIDOSIS, HEREDITARY SYSTEMIC 2 APOA1-Related Familial Visceral Amyloidosis Amyloidosis 8 Amyloidosis familial renal Amyloidosis systemic nonneuropathic Amyloidosis, hepatic and systemic FGA-Related Familial Visceral Amyloidosis Familial visceral amyloidosis German type amyloidosis LYZ-Related Familial Visceral Amyloidosis Ostertag type amyloidosis Select item 1645893 Familial juvenile hyperuricemic nephropathy type 1 Glomerulocystic kidney disease with hyperuricemia and isosthenuria Medullary cystic kidney disease 2 Medullary cystic kidney disease 2, autosomal dominant TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 UMOD-Associated Kidney Disease Uromodulin-associated kidney disease Select item 375581 Developmental and epileptic encephalopathy, 8 ARHGEF9-Related Hyperekplexia Early infantile epileptic encephalopathy 8 HYPEREKPLEXIA AND EPILEPSY Select item 462293 Long QT syndrome 2 Select item 412966 Lynch syndrome 8 Colorectal cancer, hereditary nonpolyposis, type 8 Select item 422453 Bardet-Biedl syndrome 2 Select item 7517 Medulloblastoma MEDULLOBLASTOMA PREDISPOSITION SYNDROME Medulloblastoma, SUFU-Related Medulloblastoma, somatic Select item 410075 Osteogenesis imperfecta type 8 LEPRE1-Related Osteogenesis Imperfecta OI type VIII Osteogenesis Imperfecta Type VIII Select item 152875 Hypercholesterolemia, familial, 1 Fredrickson type IIa hyperlipoproteinemia HYPER-LOW-DENSITY-LIPOPROTEINEMIA HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL Hyper-beta-lipoproteinemia Hyperlipoproteinemia Type II Hyperlipoproteinemia Type IIa Hyperlipoproteinemia type 2 LDL RECEPTOR DISORDER LDLR-Related Familial Hypercholesterolemia, Autosomal Dominant Select item 400197 Alzheimer disease 2 ALZHEIMER DISEASE 2, LATE-ONSET ALZHEIMER DISEASE ASSOCIATED WITH APOE4 Alzheimer disease associated with APOE E4 Late-onset familial alzheimer disease Select item 289648 Hypogonadotropic hypogonadism 2 with or without anosmia HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY TO HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO Kallmann syndrome 2 Select item 1631383 Paroxysmal nonkinesigenic dyskinesia 1 Dystonia 8 Familial Paroxysmal Nonkinesigenic Dyskinesia Familial paroxysmal choreoathetosis Mount-Reback syndrome Nonkinesigenic choreoathetosis Paroxysmal dystonic choreoathetosis PxMD-PNKD Select item 482274 Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism Cerebellar hypoplasia with endosteal sclerosis Endosteal sclerosis-cerebellar hypoplasia syndrome Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH HYPODONTIA AND HYPOGONADOTROPIC HYPOGONADISM Select item 390817 Diamond-Blackfan anemia 8 RPS7-Related Diamond-Blackfan Anemia Select item 1794136 Interstitial lung disease 2 Familial Pulmonary Fibrosis Familial idiopathic pulmonary fibrosis Fibrocystic pulmonary dysplasia Fibrosing alveolitis, cryptogenic Select item 1641146 Long QT syndrome 1 Select item 462430 Type II complement component 8 deficiency C8 beta deficiency C8 deficiency type II C8B DEFICIENCY COMPLEMENT C8 DEFICIENCY, TYPE II COMPLEMENT COMPONENT 8B DEFICIENCY Complement component 8 deficiency type 2 Human complement C8-beta deficiency Select item 370755 Febrile seizures, familial, 8 CONVULSIONS, FAMILIAL FEBRILE, 8 GABRG2-Related Generalized Epilepsy with Febrile Seizures Plus 
