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 945 Hereditary factor IX deficiency disease Christmas disease F9 DEFICIENCY Factor IX deficiency HEM B Hemophilia B PLASMA THROMBOPLASTIN COMPONENT DEFICIENCY 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 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 182973 Leber optic atrophy Leber hereditary optic neuropathy Leber's disease Leber's optic atrophy Optic Atrophy, Hereditary, Leber 
