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 463628 Fanconi anemia complementation group E Select item 714428 BLOOD GROUP, RH SYSTEM BLOOD GROUP--RHESUS SYSTEM E POLYPEPTIDE Select item 341248 Familial isolated deficiency of vitamin E Ataxia with isolated vitamin E deficiency Ataxia with vitamin E deficiency Friedreich-like ataxia with selective vitamin E deficiency Select item 439 Ataxia-telangiectasia syndrome AT, COMPLEMENTATION GROUP C ATAXIA-TELANGIECTASIA, COMPLEMENTATION GROUP A ATAXIA-TELANGIECTASIA, FRESNO VARIANT Ataxia-telangiectasia Ataxia-telangiectasia, complementation group D Ataxia-telangiectasia, complementation group E Cerebello-oculocutaneous telangiectasia Immunodeficiency with ataxia telangiectasia Louis-Bar syndrome Select item 232603 Colorectal cancer, hereditary nonpolyposis, type 2 COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2 Hereditary non-polyposis colorectal cancer, type 2 Lynch syndrome II MLH1-Related Lynch Syndrome Select item 327063 IgE responsiveness, atopic IMMUNOGLOBULIN E, BASIC LEVEL OF, IN SERUM Select item 231157 Muir-Torré syndrome Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas MLH1-Related Muir-Torre Syndrome MSH2-Related Muir-Torre Syndrome Muir-Torre syndrome Select item 44264 Gastric cancer Malignant tumor of stomach Stomach cancer Select item 1633554 Lynch syndrome Select item 1748029 Mismatch repair cancer syndrome 1 BRAIN TUMOR-POLYPOSIS SYNDROME 1 BTP1 SYNDROME CHILDHOOD CANCER SYNDROME MISMATCH REPAIR DEFICIENCY MMR DEFICIENCY Select item 96903 Endometrial carcinoma Endometrial carcinoma, somatic Select item 1846538 Hyper-IgE recurrent infection syndrome 1, autosomal dominant AD hyperimmunoglobulin E syndrome Autosomal Dominant Hyper IgE Syndrome HIES autosomal dominant HYPER-IgE SYNDROME 1, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS Hyper Ig E syndrome, autosomal dominant Hyper-IgE recurrent infection syndrome 1 Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant Job syndrome Job's Syndrome Select item 924974 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 COD-MD syndrome Cerebroocular dysgenesis Cerebroocular dysplasia muscular dystrophy syndrome Chemke syndrome Hard +/- E syndrome Hydrocephalus, agyria and retinal dysplasia Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 Pagon syndrome WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED Warburg syndrome Select item 474474 Familial adenomatous polyposis 2 ADENOMAS, MULTIPLE COLORECTAL, AUTOSOMAL RECESSIVE Adenomas, multiple colorectal COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE FAP type 2 MUTYH-associated polyposis MUTYH-related attenuated familial adenomatous polyposis MYH-associated polyposis Select item 9364 Familial type 3 hyperlipoproteinemia Apolipoprotein e, deficiency or defect of Broad beta disease Broad-betalipoproteinemia Dysbetalipoproteinemia Dysbetalipoproteinemia due to defect in apolipoprotein e-d Familial dysbetalipoproteinemia Familial hyperbeta- and prebetalipoproteinemia Familial hypercholesterolemia with hyperlipemia Floating-betalipoproteinemia Hyperlipemia with familial hypercholesterolemic xanthomatosis Hyperlipoproteinemia type 3 Hyperlipoproteinemia type III Remnant removal disease Select item 318886 Lynch syndrome 5 Colorectal cancer, hereditary nonpolyposis, type 5 Hereditary non-polyposis colorectal cancer, type 5 Select item 82777 Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY GALACTOSEMIA I GALT deficiency Galactose-1-phosphate uridyltransferase deficiency Galactosemia, classic Transferase Deficiency Galactosemia Select item 928336 Charcot-Marie-Tooth disease dominant intermediate E CHARCOT-MARIE-TOOTH NEUROPATHY WITH FOCAL SEGMENTAL GLOMERULONEPHRITIS Select item 777171 X-linked chondrodysplasia punctata 1 Arylsulfatase E deficiency Chondrodysplasia punctata 1, X-linked recessive Chondrodysplasia punctata, X-linked recessive Chondrodysplasia punctata, brachytelephalangic 
