Select item 885912 Inherited obesity Select item 11313 Sandhoff disease Beta-hexosaminidase-beta-subunit deficiency GM2 gangliosidosis, type 2 GM2-GANGLIOSIDOSIS, TYPE II HEXOSAMINIDASES A AND B DEFICIENCY Hexosaminidase A and B deficiency Disease Sandhoff-Jatzkewitz-Pilz disease Total hexosaminidase deficiency Select item 42105 Hereditary fructosuria Aldolase B deficiency FRUCTOSEMIA Fructose intolerance Fructose-1,6-bisphosphate aldolase B deficiency Fructose-1-phosphate aldolase deficiency Hereditary fructose intolerance Select item 336901 Fanconi anemia complementation group B FANCONI PANCYTOPENIA, TYPE 2 Select item 309962 Hypercholesterolemia, autosomal dominant, type B APOLIPOPROTEIN B-100, FAMILIAL DEFECTIVE APOLIPOPROTEIN B-100, FAMILIAL LIGAND-DEFECTIVE Familial Hypercholesterolemia Type B Familial hypercholesterolemia 2 HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B Hyperlipoproteinemia Type IIb Select item 78651 Niemann-Pick disease, type B Select item 354935 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency ADA deficiency ADA-SCID Adenosine Deaminase Deficiency Adenosine Deaminase-Deficient Severe Combined Immunodeficiency Disease (SCID) Adenosine deaminase deficient severe combined immunodeficiency SCID DUE TO ADA DEFICIENCY, EARLY-ONSET Severe combined immunodeficiency due to ADA deficiency Severe combined immunodeficiency due to adenosine deaminase deficiency Select item 945 Hereditary factor IX deficiency disease Christmas disease F9 DEFICIENCY Factor IX deficiency HEM B Hemophilia B PLASMA THROMBOPLASTIN COMPONENT DEFICIENCY Select item 326760 Susceptibility to severe cutaneous adverse reaction Select item 416691 Atypical hemolytic-uremic syndrome with B factor anomaly AHUS, SUSCEPTIBILITY TO, 4 Atypical hemolytic-uremic syndrome 4 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4 Select item 44514 Mucopolysaccharidosis type 6 Arylsulfatase B deficiency MPS 6 MPS VI Maroteaux Lamy syndrome Mucopolysaccharidosis type VI N-acetylgalactosamine-4-sulfatase deficiency Select item 321935 Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive SCID, AR, T-cell negative, B-cell negative, NK cell-positive SCID, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive, RAG1/RAG2-Related Severe combined immunodeficiency due to complete RAG1/2 deficiency Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive Select item 11713 Tay-Sachs disease GM2 gangliosidosis, type 1 HexA deficiency Hexosaminidase A Deficiency Hexosaminidase alpha-subunit deficiency (variant B) Sphingolipidosis, Tay-Sachs Select item 320506 Melanoma, cutaneous malignant, susceptibility to, 1 B-K MOLE SYNDROME Cutaneous malignant melanoma 1 DYSPLASTIC NEVUS SYNDROME, HEREDITARY FAMILIAL ATYPICAL MOLE-MALIGNANT MELANOMA SYNDROME MELANOMA, MALIGNANT Select item 83428 Colorectal cancer Colorectal cancer, somatic Malignant Colorectal Neoplasm Select item 7467 Deficiency of alpha-mannosidase Alpha mannosidase B deficiency Alpha-Mannosidosis Lysosomal alpha-D-mannosidase deficiency Mannosidosis, alpha B lysosomal Select item 370149 Malaria, susceptibility to Select item 220906 X-linked severe combined immunodeficiency IMMUNODEFICIENCY 4 Severe combined immunodeficiency, X-linked, T cell-negative, B cell-positive, NK cell-negative T-B+ severe combined immunodeficiency due to gamma chain deficiency X-Linked Combined Immunodeficiency Diseases Select item 349380 Paragangliomas 4 CAROTID BODY TUMORS AND MULTIPLE EXTRAADRENAL PHEOCHROMOCYTOMAS PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 4 Paraganglioma, familial malignant Paragangliomas, hereditary extraadrenal Pheochromocytoma, extraadrenal and cervical paraganglioma Pheochromocytoma, familial extraadrenal SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome (Paragangliomas 4) Select item 852267 Cardiofaciocutaneous syndrome 1 BRAF-Related Cardiofaciocutaneous Syndrome Congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure 
