Select item 315656 Rapp-Hodgkin ectodermal dysplasia syndrome Ectodermal dysplasia, anhidrotic, with cleft lip/palate Isolated Cleft Lip/Cleft Palate (Orofacial Cleft 8) Rapp-Hodgkin syndrome Select item 376072 Alzheimer disease 4 Alzheimer Disease Risk Factor (APOE Genotype) Alzheimer disease familial type 4 Select item 82783 Deficiency of steroid 11-beta-monooxygenase 11-alpha beta-hydroxylase deficiency 11-beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 11-beta-hydroxylase deficiency ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY Adrenal hyperplasia 4 Adrenal hyperplasia IV Adrenal hyperplasia hypertensive form Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency P450c11b1 deficiency Steroid 11-beta-hydroxylase deficiency Select item 343120 Split hand-foot malformation 4 Split-Hand/Foot Malformation Type 4 (SHFM4 syndrome) Split-Hand/Foot Malformation Type 4 (SHFM4) Split-hand/foot malformation 4 Select item 7517 Medulloblastoma MEDULLOBLASTOMA PREDISPOSITION SYNDROME Medulloblastoma, SUFU-Related Medulloblastoma, somatic Select item 765943 Autosomal recessive congenital ichthyosis 8 ICHTHYOSIS, LAMELLAR, 4 LAMELLAR ICHTHYOSIS, LATE-ONSET Select item 347674 Autosomal recessive limb-girdle muscular dystrophy type 2E Beta-sarcoglycan limb-girdle muscular dystrophy Limb-girdle muscular dystrophy, type 2E MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 4 Muscular dystrophy limb-girdle with beta-sarcoglycan deficiency Select item 377541 Orofacial cleft 8 Cleft lip with or without cleft palate, nonsyndromic, 8 Select item 82799 Familial visceral amyloidosis, Ostertag type AMYLOIDOSIS, HEREDITARY SYSTEMIC 2 APOA1-Related Familial Visceral Amyloidosis Amyloidosis 8 Amyloidosis familial renal Amyloidosis systemic nonneuropathic Amyloidosis, hepatic and systemic FGA-Related Familial Visceral Amyloidosis Familial visceral amyloidosis German type amyloidosis LYZ-Related Familial Visceral Amyloidosis Ostertag type amyloidosis Select item 766755 Hypogonadotropic hypogonadism 8 with or without anosmia HYPOGONADOTROPIC HYPOGONADISM 8 WITH ANOSMIA, SUSCEPTIBILITY TO KISS1R-Related Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency Select item 350245 Familial hemophagocytic lymphohistiocytosis 4 Select item 905171 Senior-Loken syndrome 8 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 347666 Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 EEC SYNDROME 3 Ectrodactyly, Ectodermal Dysplasia, Cleft Lip/Palate Syndrome 3 (EEC3) Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome Type 3 (EEC3) Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 Select item 766431 Cornelia de Lange syndrome 4 CORNELIA DE LANGE SYNDROME 4 WITH OR WITHOUT MIDLINE BRAIN DEFECTS RAD21-Related Cornelia de Lange Syndrome Select item 98032 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome AEC syndrome Ankyloblepharon-ectodermal defects, cleft lip/palate Hay-Wells syndrome Hay-Wells syndrome of ectodermal dysplasia Select item 400232 ADULT syndrome Acro-Dermo-Ungual-Lacrimal-Tooth Syndrome (ADULT Syndrome) Acro-dermato-ungual-lacrimal-tooth syndrome Select item 1718159 Galactosemia 4 GALACTOSE MUTAROTASE DEFICIENCY GALACTOSEMIA IV Select item 766426 Combined immunodeficiency due to LRBA deficiency Common variable immunodeficiency 8, with autoimmunity Select item 355051 Limb-mammary syndrome Mammary hypoplasia, ectrodactyly, and other hand/foot anomalies 
