Select item 45811 Familial Mediterranean fever Benign paroxysmal peritonitis Familial Mediterranean Fever Type 1 Familial Mediterranean Fever Type 2 POLYSEROSITIS, FAMILIAL PAROXYSMAL POLYSEROSITIS, RECURRENT Periodic disease Periodic peritonitis Select item 41522 Diabetes mellitus type 1 Select item 409531 Gaucher disease type I Acid beta-glucosidase deficiency GBA DEFICIENCY GD 1 GD I Gaucher disease type 1 Gaucher disease, noncerebral juvenile Gaucher's disease, type 1 Glucocerebrosidase deficiency 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 811346 Meckel syndrome, type 1 MECKEL-GRUBER SYNDROME, TYPE 1 MKS1-Related Meckel Syndrome Select item 356466 Bilirubin, serum level of, quantitative trait locus 1 Select item 42164 Gaucher disease Acute cerebral Gaucher disease Cerebroside lipidosis syndrome Gaucher splenomegaly Glucocerebrosidosis Glucosyl cerebroside lipidosis Glucosylceramidase deficiency Kerasin lipoidosis Kerasin thesaurismosis Sphingolipidosis 1 Select item 423615 Lynch syndrome 1 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1 Colorectal cancer, hereditary, nonpolyposis, type 1 Hereditary non-polyposis colorectal cancer, type 1 Lynch syndrome I MSH2-Related Hereditary Non-Polyposis Colon Cancer MSH2-Related Lynch Syndrome Select item 332156 Susceptibility to HIV infection HIV-1, SUSCEPTIBILITY TO HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RESISTANCE TO Human immunodeficiency virus type 1, susceptibility to Select item 75658 Primary hyperoxaluria, type I Glycolic aciduria Hepatic AGT deficiency OXALOSIS I Oxalosis 1 Peroxisomal alanine glyoxylate aminotransferase deficiency Primary hyperoxaluria type 1 Serine pyruvate aminotransferase deficiency 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 1643124 Pulmonary hypertension, primary, 1 Select item 220393 von Willebrand disease type 1 VON WILLEBRAND DISEASE, TYPE I VWD, TYPE 1 Select item 21921 Wiskott-Aldrich syndrome Aldrich syndrome Eczema thrombocytopenia immunodeficiency syndrome IMD 2 Immunodeficiency 2 WISKOTT-ALDRICH SYNDROME 1 Wiskott-aldrich syndrome, somatic Select item 923943 Frontometaphyseal dysplasia 1 Select item 78542 Oto-palato-digital syndrome, type I OPD I SYNDROME OPD syndrome OPD syndrome 1 Oto-palato-digital syndrome type 1 Otopalatodigital Syndrome, Type I Taybi syndrome Select item 61440 Pelizaeus-Merzbacher disease LEUKODYSTROPHY, HYPOMYELINATING, 1 Pelizaeus Merzbacher brain sclerosis Pelizeaus-Merzbacher spectrum disorder Sudanophilic leukodystrophy Select item 343561 Exudative vitreoretinopathy 1 Criswick-Schepens syndrome FEVR, AUTOSOMAL DOMINANT FZD4-Related Familial Exudative Vitreoretinopathy, Autosomal Dominant Familial exudative vitreoretinopathy, autosomal dominant Select item 924303 Sialidosis type 2 CHERRY RED SPOT--MYOCLONUS SYNDROME Glycoprotein neuraminidase deficiency Lipomucopolysaccharidosis ML I Mucolipidosis I Mucolipidosis type 1 NEU 1 deficiency NEU DEFICIENCY Neuraminidase 1 deficiency Neuraminidase deficiency Sialidase deficiency Sialidosis, type II Select item 341253 Methylmalonic aciduria and homocystinuria type cblD METHYLMALONIC ACIDEMIA, cblH TYPE Methylmalonic acidemia with homocystinuria cblD Methylmalonic aciduria with homocystinuria cblD type cblD (variant 1) cblD (variant 2) 
