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 75679 Acatalasia ACATALASEMIA, HUNGARIAN TYPE Acatalasemia Catalase deficiency Select item 67461 Alpha-1-antitrypsin deficiency A1AT deficiency AAT deficiency Alpha1-Antitrypsin Deficiency Select item 1377970 Aortic aneurysm, familial thoracic 11, susceptibility to Select item 854382 Very long chain acyl-CoA dehydrogenase deficiency Select item 65086 Medium-chain acyl-coenzyme A dehydrogenase deficiency CARNITINE DEFICIENCY SECONDARY TO MEDIUM-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY MCADD Medium chain acyl-CoA dehydrogenase deficiency Select item 61234 Aarskog syndrome AARSKOG-SCOTT SYNDROME WITH ATTENTION DEFICIT-HYPERACTIVITY DISORDER Aarskog Scott syndrome Aarskog disease Aarskog-Scott syndrome, X-linked FGDY Select item 90998 Deficiency of butyryl-CoA dehydrogenase ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF Lipid-storage myopathy secondary to short chain acyl CoA dehydrogenase deficiency SCAD DEFICIENCY, MILD Short Chain Acyl-CoA Dehydrogenase Deficiency Select item 382398 Loeys-Dietz syndrome 2 Aortic aneurysm, familial thoracic 3 Loeys-Dietz syndrome type 1B Loeys-Dietz syndrome type 2B MARFAN SYNDROME, TYPE II MFS 2 Marfan Syndrome type 2 Marfan like connective tissue disorder Marfan syndrome, type 2 (formerly) TGFBR2-Related Loeys-Dietz Syndrome TGFBR2-Related Thoracic Aortic Aneurysms and Aortic Dissections Select item 355324 Deficiency of 2-methylbutyryl-CoA dehydrogenase 2-methylbutyric aciduria 2-methylbutyryl-CoA dehydrogenase deficiency 2-methylbutyrylglycinuria Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency SBCAD deficiency Short branched-chain acyl-CoA dehydrogenase deficiency Select item 91038 Congenital aneurysm of ascending aorta AORTIC ANEURYSM, FAMILIAL THORACIC 1 Annuloaortic ectasia Aortic aneurysm, thoracic Familial aortic dissection Familial thoracic aortic aneurysm Select item 220945 Deficiency of aromatic-L-amino-acid decarboxylase Aromatic L-Amino Acid Decarboxylase Deficiency Aromatic amino acid decarboxylase deficiency DDC deficiency Dopa decarboxylase deficiency Select item 82889 Glucocorticoid deficiency with achalasia AAA syndrome ACTH-resistant adrenal insufficiency, achalasia and alacrima Achalasia alacrima syndrome Achalasia-Addisonianism-Alacrima (Triple-A) Syndrome Achalasia-Addisonianism-Alacrima Syndrome Achalasia-addisonianism-alacrimia syndrome Addisonian achalasia syndrome Alacrima-achalasia-addisonianism Alacrima-achalasia-adrenal insufficiency neurologic disorder Allgrove syndrome Glucocorticoid deficiency and achalasia Hypoadrenalism with achalasia Triple-A syndrome Select item 422448 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis Antley-Bixler Syndrome, Autosomal Dominant Multisynostotic osteodysgenesis with long bone fractures Osteodysgenesis, multisynostotic with fractures Trapezoidocephaly synostosis syndrome Select item 435866 Aortic aneurysm, familial thoracic 6 ACTA2-Related Thoracic Aortic Aneurysms and Aortic Dissections FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI Select item 383691 Severe early-childhood-onset retinal dystrophy ABCA4-Related Stargardt Disease 1 CNGB3-Related Stargardt Disease 1 Juvenile onset macular degeneration MACULAR DYSTROPHY WITH FLECKS, TYPE 1 STGD Stargardt disease 1 Stargardt macular dystrophy Select item 461449 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis Cytochrome P450 Oxidoreductase Deficiency POR Deficiency Select item 462427 Aortic aneurysm, familial thoracic 7 AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM MYLK-Related Thoracic Aortic Aneurysms and Aortic Dissections Select item 338704 Aortic aneurysm, familial thoracic 4 Aortic aneurysm/aortic dissection and patent ductus arteriosus MYH11-Related Thoracic Aortic Aneurysms and Aortic Dissections Select item 815843 Aortic aneurysm, familial thoracic 8 
