Select item 9730 Acute myeloid leukemia AML adult Acute granulocytic leukemia Acute myelogenous leukemia Acute myeloid leukemia, adult Acute non-lymphocytic leukemia Familial Acute Myelocytic Leukemia Leukemia, acute myelogenous, somatic Leukemia, acute myeloid, somatic Select item 904175 Thyroid cancer, nonmedullary, 2 THYROID CANCER, NONMEDULLARY, 2, SUSCEPTIBILITY TO THYROID CARCINOMA, FOLLICULAR Thyroid carcinoma, follicular, somatic Select item 301243 Finnish type amyloidosis AMYLOIDOSIS, HEREDITARY SYSTEMIC 4, FINNISH TYPE Amyloid cranial neuropathy with lattice corneal dystrophy Amyloidosis 5 Amyloidosis V Amyloidosis due to mutant gelsolin Amyloidosis, familial, Finnish type Lattice corneal dystrophy associated with familial systemic amyloidosis Lattice dystrophy of the cornea with hereditary generalized amyloidosis Meretoja type amyloidosis Meretoja's syndrome 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 416607 Neuroblastoma, susceptibility to, 2 Select item 388039 Congenital bile acid synthesis defect 4 CHOLESTASIS, INTRAHEPATIC, WITH DEFECTIVE CONVERSION OF TRIHYDROXYCOPROSTANIC ACID TO CHOLIC ACID Cholestasis, intrahepatic, with defective conversion of Trihydroxycoprostanic acid in bile Trihydroxycoprostanic acid to cholic acid Select item 98464 Familial aplasia of the vermis CEREBELLOPARENCHYMAL DISORDER IV Cerebelloparenchymal disorder 4 Joubert syndrome Joubert-Boltshauser syndrome Select item 318623 Wilms tumor 4 Select item 5956 Keratosis follicularis Darier disease Darier's disease Darier-White Disease Select item 462793 Dyskeratosis congenita, autosomal dominant 2 Select item 376379 Pontocerebellar hypoplasia type 2A PONTOCEREBELLAR HYPOPLASIA WITH PROGRESSIVE CEREBRAL ATROPHY VOLENDAM NEURODEGENERATIVE DISEASE Select item 383840 Congenital bile acid synthesis defect 2 Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency Select item 420956 Pontocerebellar hypoplasia type 2 Progressive microcephaly from birth extrapyramidal dyskinesia chorea epilepsy Select item 481329 Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL, NEONATAL, DUE TO ATP SYNTHASE DEFICIENCY MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, TMEM70 TYPE Nuclear-Encoded ATPase Deficiency, TMEM70-Related Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 Select item 75667 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency Familial incomplete male pseudohermaphroditism, type 2 Male pseudohermaphroditism due to 5-alpha-reductase deficiency Pseudovaginal perineoscrotal hypospadias Steroid 5-Alpha-Reductase Deficiency Select item 10071 BLOOD GROUP, MN Select item 68568 Spermatogenic failure 4 AZOOSPERMIA WITH MATURATION ARREST Arrest of spermatogenesis Azoospermia due to Perturbations of Meiosis PREGNANCY LOSS 4 Spermatogenesis arrest Select item 346653 Hereditary angioedema type 3 ANGIONEUROTIC EDEMA, HEREDITARY, WITH NORMAL C1 INHIBITOR CONCENTRATION AND FUNCTION ESTROGEN-RELATED HAE ESTROGEN-SENSITIVE HAE HAE WITH NORMAL C1 INHIBITOR CONCENTRATION AND FUNCTION Hereditary angioedema, type III Select item 411234 Spondyloepimetaphyseal dysplasia, PAPSS2 type BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES SEMD, PAKISTANI TYPE Spondyloepimetaphyseal dysplasia, pakistani type Select item 87440 Hypogonadotropic hypogonadism 7 with or without anosmia HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency 
