Select item 852267 Cardiofaciocutaneous syndrome 1 BRAF-Related Cardiofaciocutaneous Syndrome Congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure Select item 1638960 Noonan syndrome 1 Female pseudo-Turner syndrome PTPN11-Related Noonan Syndrome Turner Syndrome, Male Turner phenotype with normal karyotype Select item 155923 Unverricht-Lundborg syndrome EPILEPSY, PROGRESSIVE MYOCLONIC, 1A Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) Epilepsy, progressive myoclonic type 1 Epilepsy, progressive myoclonus 1 Myoclonic epilepsy of Unverricht and Lundborg Myoclonus progressive epilepsy of Unverricht and Lundborg Progressive myoclonus epilepsy baltic myoclonic epilepsy Unverricht-Lundborg Disease Select item 1253 Abetalipoproteinaemia Abetalipoproteinemia Abetalipoproteinemia neuropathy Apolipoprotein B deficiency Bassen Kornzweig syndrome Betalipoprotein deficiency disease Congenital betalipoprotein deficiency syndrome Low-density beta lipoprotein deficiency MTP DEFICIENCY Microsomal triglyceride transfer protein deficiency disease Microsomal-triglyceride transfer protein deficiency Select item 331409 Glaucoma 3, primary infantile, B GLAUCOMA, PRIMARY CONGENITAL, TYPE B GLC3 type B GLC3B Glaucoma primary congenita type 3B Primary congenital glaucoma type 3B Select item 442490 Factor XIII, b subunit, deficiency of Factor XIII subunit B deficiency Select item 335764 Muscular dystrophy-dystroglycanopathy type B5 FKRP-Related Muscle Diseases MUSCULAR DYSTROPHY, CONGENITAL, 1C MUSCULAR DYSTROPHY, CONGENITAL, FKRP-RELATED MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5 Select item 1639219 Familial hypobetalipoproteinemia 1 Acanthocytosis with hypobetalipoproteinemia Hypobetalipoproteinemia, normotriglyceridemic Select item 88601 Mucopolysaccharidosis, MPS-III-B MPS 3B MPS III B MUCOPOLYSACCHARIDOSIS, TYPE IIIB Mucopoly-saccharidosis type 3B Mucopolysaccharidosis type IIIB (Sanfilippo B) N-acetyl-alpha-d-glucosaminidase deficiency NAGLU DEFICIENCY Sanfilippo syndrome B Select item 5688 Familial hypercholesterolemia Familial hypercholesterolemias Select item 383912 Glaucoma 3A Glaucoma 3, primary congenital, A Select item 864934 Hemophilia B Brandenburg Select item 413465 Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 FKTN-Related Muscle Diseases MUSCULAR DYSTROPHY, CONGENITAL, FKTN-RELATED MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 4 Select item 87442 Congenital adrenal hypoplasia, X-linked ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM Adrenal hypoplasia, congenital Isolated X-Linked Adrenal Hypoplasia Congenita X-Linked Adrenal Hypoplasia Congenita X-linked AHC Select item 481660 Monocytopenia with susceptibility to infections COMBINED IMMUNODEFICIENCY WITH SUSCEPTIBILITY TO MYCOBACTERIAL, VIRAL, AND FUNGAL INFECTIONS Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency GATA2 DEFICIENCY IMMUNODEFICIENCY 21 MONOCYTOPENIA AND MYCOBACTERIAL INFECTION SYNDROME MONOCYTOPENIA WITH SUSCEPTIBILITY TO MYCOBACTERIAL, FUNGAL, AND PAPILLOMAVIRUS INFECTIONS AND MYELODYSPLASIA Select item 1774807 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 MUSCULAR DYSTROPHY, CONGENITAL, POMT1-RELATED MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1 Select item 477969 Langereis blood group LANGEREIS BLOOD GROUP SYSTEM, LAN(-) PHENOTYPE Select item 1801019 Immunodeficiency 104 IMMUNODEFICIENCY 104, SEVERE COMBINED SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE Severe Combined Immune Deficiency, Autosomal Recessive, TCell -Negative, B Cell-Positive, NK Cell-Positive, CD3D-Related Severe Combined Immune Deficiency, Autosomal Recessive, TCell -Negative, B Cell-Positive, NK Cell-Positive, CD3E-Related Severe Combined Immune Deficiency, Autosomal Recessive, TCell -Negative, B Cell-Positive, NK Cell-Positive, IL7R-Related Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive Select item 116049 Gastrointestinal stromal tumor Gastrointestinal Stromal Sarcoma Gastrointestinal stroma tumor Gastrointestinal stromal tumor, somatic Select item 43376 Mucopolysaccharidosis, MPS-IV-B MPS 4B MPS IVB Morquio syndrome B Mucopolysaccharidosis Type IVB Mucopolysaccharidosis type 4B Mucopolysaccharidosis type IV B Mucopolysaccharidosis type IVB (Morquio) 
